A case of probable sporadic Creutzfeldt - Jakob disease (Cerebellar Variant)

Creutzfeldt - Jakob disease (CJD) is a rare, rapidly progressive, and fatal prion disorder, with sporadic cases accounting for the majority of presentations. This report details a 58-year-old male who presented with subacute cerebellar ataxia, cognitive decline, and personality changes, progressing to a diminished level of consciousness requiring mechanical ventilation. A comprehensive diagnostic evaluation, including laboratory studies, cerebrospinal fluid analysis, paraneoplastic and infectious panels, and whole-body PET-CT, excluded alternative aetiologies such as autoimmune, paraneoplastic, infectious, or metabolic causes. Brain MRI revealed diffusion restriction in the parietal cortices and caudate nuclei, consistent with the “cortical ribbon sign.” Cerebrospinal fluid assay for the 14-3-3 protein returned positive. Given the rapid clinical course, predominant cerebellar features, exclusion of mimics, and supportive biomarker and imaging findings, a diagnosis of probable sporadic CJD, cerebellar variant, was established. This case underscores the importance of systematic exclusion of treatable differentials in rapidly progressive neurological decline and highlights the role of multimodal assessment that include clinical, imaging, and CSF biomarkers. Early recognition, though unable to alter disease progression, is crucial for prognostic clarity, palliative planning, and family counselling.