A Case of Sporadic Creutzfeldt-Jakob Disease (sCJD) with Lightning-like Progression

Background: RT-QuIC (Real-Time QuIC) is a clinical diagnostic method that detects trace proteins in samples through protein amplification. According to the international CJD diagnostic criteria, RT-QuIC provides diagnostic evidence that is second only to that of pathology. Presently, this approach remains underutilized in China. Case Report: A 76-year-old female patient was admitted to the hospital for a period of two weeks, characterized by a general slowing of her cognitive responses. A physical examination revealed elevated levels of cognitive impairment, as indicated by a Mini-Mental State Examination (MMSE) score of 12 and a Montreal Cognitive Assessment (MoCA) score of 8. An electroencephalogram (EEG) revealed moderate abnormalities, characterized by intermittent high-amplitude delta waves (frequency 3–3.5 Hz) across multiple leads and short-range rhythmic discharges in several leads. A magnetic resonance imaging (MRI) scan revealed the presence of ribbon-like changes in the parietal and temporal cortical regions on diffusion-weighted imaging (DWI) sequences. CSF testing for 14-3-3 protein yielded a negative result, while RT-QuIC testing produced a positive result. Treatment: The primary management strategy encompassed the provision of supportive care and the management of symptoms. The clinical outcome is as follows: The treatment response was unsatisfactory, with a rapid disease progression over a 52-day period. The patient exhibited a progressive deterioration in visuospatial function, accompanied by the emergence of myoclonus, tremor, urinary and fecal incontinence, and motor mutism. Conclusion: RT-QuIC testing has the potential to enhance diagnostic specificity and sensitivity in patients suspected of having Creutzfeldt-Jakob disease (CJD).