Progressive multifocal diffusion-weighted imaging hyperintensities in sporadic Creutzfeldt–Jakob disease with positive cerebrospinal fluid real-time quaking-induced conversion: a case report

This case report describes a confirmed diagnosis of sporadic Creutzfeldt-Jakob disease, supported by clinical manifestations and auxiliary diagnostic tests. The patient initially presented with rapidly progressing cognitive impairment and cerebellar ataxia, which prompted clinical suspicion. Subsequent magnetic resonance imaging findings revealed progressively expanding multifocal punctate and linear diffusion-weighted imaging hyperintense lesions in both cortical and subcortical areas, reinforcing the diagnosis. The definitive diagnostic evidence was obtained through a positive real-time quaking-induced conversion assay, a highly specific test for detecting prion aggregates. Continuous follow-up and careful monitoring remain essential to refine diagnostic precision and facilitate appropriate clinical management.