When Thiamine Is Not the Answer: Sporadic Creutzfeldt-Jakob Disease Mimicking Wernicke's Encephalopathy

当硫胺素并非解决之道:散发性克雅氏病酷似韦尼克脑病

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Abstract

Creutzfeldt-Jakob disease (CJD) is a rare and rapidly progressive neurodegenerative disorder caused by the accumulation of misfolded prion proteins, resulting in neuronal damage. It can present with symptoms that mimic other neurological conditions, which can complicate early diagnosis. We report a case of a 58-year-old male who presented with cognitive decline, motor dysfunction, and behavioral changes following alcohol cessation, initially resembling Wernicke's encephalopathy. As his condition progressed, he developed nonconvulsive status epilepticus, and subsequent diagnostic workup demonstrated cortical diffusion restriction on MRI together with a positive real-time quaking-induced conversion (RT-QuIC) assay and elevated cerebrospinal fluid (CSF) 14-3-3 protein levels, confirming the diagnosis of CJD. This report highlights the diagnostic difficulties associated with prion diseases, where early symptoms may overlap with more treatable neurological conditions, and underscores the importance of considering prion disease in cases of rapidly progressive dementia that do not respond to thiamine therapy.

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