Case Report: Sporadic Creutzfeldt–Jakob disease initially misdiagnosed as ischemic stroke: a diagnostic challenge and biomarker-based clarification
- 1The First Affiliated Hospital of Anhui University of Chinese Medicine, Hefei , ,
Abstract
Background: Sporadic Creutzfeldt–Jakob disease (sCJD) is a rare and uniformly fatal prion disorder characterized by rapidly progressive dementia and heterogeneous neurological manifestations. Early sCJD may be misinterpreted as cerebrovascular disease, particularly when focal neurological deficits, unilateral diffusion abnormalities, and vascular risk factors coexist.
Case presentation: We report a 76-year-old man with a history of hypertension who initially presented with dizziness and gait instability, followed by progressive right-sided weakness, and was initially diagnosed with ischemic stroke in the setting of intracranial arterial stenosis. Despite antiplatelet and vascular management, the patient experienced rapid cognitive decline, psychiatric disturbances, aphasia, and progressive hemiparesis. Follow-up MRI demonstrated progressive, non-territorial cortical ribbon-like diffusion restriction predominantly involving the left insular, parietal, frontal, and temporal cortices. CSF analysis revealed markedly elevated total tau (4553.50 pg/mL; laboratory-reported cutoff: < 399 pg/mL), phosphorylated tau (66.93 pg/mL; laboratory-reported cutoff: < 50 pg/mL), and 14-3-3γ protein (50515 AU/mL; laboratory-reported cutoff: < 20,000 AU/mL). Autoimmune encephalitis antibodies and metagenomic next-generation sequencing were negative. PRNP genetic testing detected no pathogenic variant in the patient and his son. EEG showed diffuse slowing without periodic sharp wave complexes. According to the 2017 International CJD Surveillance Network criteria, the diagnosis was classified as probable sCJD on the basis of rapidly progressive cognitive impairment, two clinical features (documented cerebellar ataxia and pyramidal signs), characteristic MRI abnormalities, and positive CSF 14-3-3; the typical EEG criterion was absent and RT-QuIC was not performed.
Conclusion: This case highlights the diagnostic challenge of early sCJD initially misdiagnosed as ischemic stroke in the presence of coexisting vascular pathology. Recognition of non-vascular diffusion patterns, careful reassessment of atypical clinical progression, and adjunctive CSF biomarker assessment may facilitate timely diagnostic reconsideration and help avoid unnecessary interventions.
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BibTeX
@article{hao2026case,
title = {{Case Report: Sporadic Creutzfeldt–Jakob disease initially misdiagnosed as ischemic stroke: a diagnostic challenge and biomarker-based clarification}},
author = {Wenjie Hao and Xuan Zhou and Meixia Wang and Wenming Yang and Ting Cheng},
journal = {Frontiers in cellular neuroscience},
year = {2026},
month = oct,
doi = {10.3389/fncel.2026.1938627},
url = {https://europepmc.org/article/PMC/PMC13719361},
note = {CC BY},
}
RIS
TY - JOUR
TI - Case Report: Sporadic Creutzfeldt–Jakob disease initially misdiagnosed as ischemic stroke: a diagnostic challenge and biomarker-based clarification
AU - Wenjie Hao
AU - Xuan Zhou
AU - Meixia Wang
AU - Wenming Yang
AU - Ting Cheng
PY - 2026
DA - 2026/10/16
JO - Frontiers in cellular neuroscience
DO - 10.3389/fncel.2026.1938627
UR - https://europepmc.org/article/PMC/PMC13719361
AB - Background: Sporadic Creutzfeldt–Jakob disease (sCJD) is a rare and uniformly fatal prion disorder characterized by rapidly progressive dementia and heterogeneous neurological manifestations. Early sCJD may be misinterpreted as cerebrovascular disease, particularly when focal neurological deficits, unilateral diffusion abnormalities, and vascular risk factors coexist. Case presentation: We report a 76-year-old man with a history of hypertension who initially presented with dizziness and gait instability, followed by progressive right-sided weakness, and was initially diagnosed with ischemic stroke in the setting of intracranial arterial stenosis. Despite antiplatelet and vascular management, the patient experienced rapid cognitive decline, psychiatric disturbances, aphasia, and progressive hemiparesis. Follow-up MRI demonstrated progressive, non-territorial cortical ribbon-like diffusion restriction predominantly involving the left insular, parietal, frontal, and temporal cortices. CSF analysis revealed markedly elevated total tau (4553.50 pg/mL; laboratory-reported cutoff: < 399 pg/mL), phosphorylated tau (66.93 pg/mL; laboratory-reported cutoff: < 50 pg/mL), and 14-3-3γ protein (50515 AU/mL; laboratory-reported cutoff: < 20,000 AU/mL). Autoimmune encephalitis antibodies and metagenomic next-generation sequencing were negative. PRNP genetic testing detected no pathogenic variant in the patient and his son. EEG showed diffuse slowing without periodic sharp wave complexes. According to the 2017 International CJD Surveillance Network criteria, the diagnosis was classified as probable sCJD on the basis of rapidly progressive cognitive impairment, two clinical features (documented cerebellar ataxia and pyramidal signs), characteristic MRI abnormalities, and positive CSF 14-3-3; the typical EEG criterion was absent and RT-QuIC was not performed. Conclusion: This case highlights the diagnostic challenge of early sCJD initially misdiagnosed as ischemic stroke in the presence of coexisting vascular pathology. Recognition of non-vascular diffusion patterns, careful reassessment of atypical clinical progression, and adjunctive CSF biomarker assessment may facilitate timely diagnostic reconsideration and help avoid unnecessary interventions.
SN - 1662-5102
ER -