Atypical Presentation of Heidenhain Variant of Sporadic Creutzfeldt-Jakob Disease: Diagnostic Challenges and Clinical Insight

Creutzfeldt-Jacob disease (CJD) is a rare, fatal neurodegenerative disorder caused by prion protein accumulation. The Heidenhain variant is an even rarer form, primarily presenting with early visual disturbances, often leading to delayed diagnosis. This case report describes an elderly female who initially presented with visual disturbances, which progressed to severe neurological decline. The initial misdiagnosis of a stroke delayed the recognition of the Heidenhain variant of CJD. Diagnosis was ultimately confirmed by cerebrospinal fluid (CSF) analysis using the real-time quaking-induced conversion (RT-QuIC) assay, and palliative care was provided. This case emphasizes the need for early recognition of prion diseases in patients presenting with visual symptoms and rapidly progressive neurological decline.