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Human prion diseases such as sporadic Creutzfeldt–Jakob disease (sCJD) are the archetypal causes of rapidly progressive dementia, but reversible causes might mimic prion disease and should always be considered in a differential diagnosis. Clinical features of sCJD can be shared by other conditions and can also joint neuroimaging findings in magnetic resonance imaging (MRI). Therefore, an early recognition of a potentially treatable cause of rapid progressive dementia is lacking. Although not embedded yet into the diagnostic routine, positron emission tomography using [18F]fluorodeoxyglucose (FDG-PET) has been proven to reflect areas of cortical and subcortical hypometabolism suggesting sCJD, even before clear hyperintensities in diffusion-weighted imaging MRI sequences.

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Case 11: Creutzfeldt–Jakob Disease with Pathological Confirmation

  • 章节

  • 发表日期：

    2025年

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  • Javier Arbizu,
  • Juan Jose Rosales

摘要

Human prion diseases such as sporadic Creutzfeldt–Jakob disease (sCJD) are the archetypal causes of rapidly progressive dementia, but reversible causes might mimic prion disease and should always be considered in a differential diagnosis. Clinical features of sCJD can be shared by other conditions and can also joint neuroimaging findings in magnetic resonance imaging (MRI). Therefore, an early recognition of a potentially treatable cause of rapid progressive dementia is lacking. Although not embedded yet into the diagnostic routine, positron emission tomography using [18F]fluorodeoxyglucose (FDG-PET) has been proven to reflect areas of cortical and subcortical hypometabolism suggesting sCJD, even before clear hyperintensities in diffusion-weighted imaging MRI sequences.