Creutzfeldt-Jakob disease: Case report and literature review

克雅氏病:病例报告及文献综述

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Abstract

Creutzfeldt-Jakob Disease (CJD) is a rare, rapidly progressive neurodegenerative disorder that presents significant diagnostic challenges. We report the case of a 50-year-old male with a four-month history of progressive neurological symptoms, including speech disturbances, hemiparesis, ataxia, and myoclonus. Initial brain MRI showed no significant abnormalities, but later imaging revealed characteristic hyperintensities in the frontal and paracentral regions, basal ganglia, and temporal cortex on T2 and FLAIR sequences. EEG showed periodic lateralized discharges, supporting the clinical suspicion of CJD. Although confirmatory tests like RT-QuIC and CSF biomarkers could not be performed due to financial constraints, the clinical presentation and imaging findings met the criteria for "probable" sporadic CJD. Unfortunately, the patient's condition rapidly deteriorated, and he passed away within four months. This case underscores the importance of early imaging and clinical awareness in diagnosing CJD, particularly in resource-limited settings, and highlights the need for further research into effective treatments for this fatal disease.

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