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A 76-year-old obese male presented for cognitive decline, mainly with deficits in the verbal domain (anomia and verbal perseverations), drowsiness, mild camptocormic posture with left arm bradykinesia, and recurrent falls. In the clinical suspect of a primary progressive aphasia with parkinsonism, the patient was referred to a [18F]FDG PET/MR that showed moderate cortical hypometabolism in the left temporal pole extending to the homolateral insular region. A co-acquired high-resolution diffusion-weighted imaging (DWI) sequence (Resolve, Siemens), however, showed (b value of 1000s/mm2) linear hyperintensity following the cortical rim corresponding to the [18F]FDG hypometabolism. A sporadic, atypical Creutzfeldt–Jacob disease (CJD) was supposed and subsequently confirmed by a real-time quaking-induced conversion (RT-QuIC) assay in the CSF.

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Case 10: Creutzfeldt–Jakob Disease

  • 章节

  • 发表日期：

    2025年

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  • Diego Cecchin,
  • Carlo Gabelli,
  • Mariagiulia Anglani

摘要

A 76-year-old obese male presented for cognitive decline, mainly with deficits in the verbal domain (anomia and verbal perseverations), drowsiness, mild camptocormic posture with left arm bradykinesia, and recurrent falls. In the clinical suspect of a primary progressive aphasia with parkinsonism, the patient was referred to a [18F]FDG PET/MR that showed moderate cortical hypometabolism in the left temporal pole extending to the homolateral insular region. A co-acquired high-resolution diffusion-weighted imaging (DWI) sequence (Resolve, Siemens), however, showed (b value of 1000s/mm2) linear hyperintensity following the cortical rim corresponding to the [18F]FDG hypometabolism. A sporadic, atypical Creutzfeldt–Jacob disease (CJD) was supposed and subsequently confirmed by a real-time quaking-induced conversion (RT-QuIC) assay in the CSF.