Atypical Initial Manifestation of Sporadic Creutzfeldt-Jakob Disease as Progressive Aphasia and Palinopsia: A Case Report

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder that causes rapidly progressive dementia. While it typically presents with cognitive decline, ataxia, and myoclonus, atypical presentations are increasingly recognized. Here we present the case of a 57-year-old male with the MM1 subtype of sCJD. He had an atypical presentation of progressive language difficulties and subtle visual disturbances, initially diagnosed as primary progressive aphasia. Brain MRI showed an indistinct left parietal-occipital T2 hyperintensity. Subsequent MRI scans of the brain taken over a period of several months showed left caudate diffusion restriction. EEG demonstrated left hemispheric slowing and bifrontal triphasic discharges. The patient also began exhibiting prominent visual disturbances and hallucinations, which are typically associated with the Heidenhain variant of Creutzfeldt-Jakob disease (CJD). However, his aphasia differed from the classic Heidenhain presentation. This case highlights that sCJD can be easily misdiagnosed as other neurological conditions due to its variable presentation, in this case, initially resembling primary progressive aphasia. Awareness of atypical presentations is crucial for early identification and diagnosis of sCJD.