Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive, and fatal prion disorder typically presenting with dementia, myoclonus, and cerebellar or visual disturbances. Oculomotor abnormalities, such as supranuclear gaze palsy, are uncommon and can mimic progressive supranuclear palsy, potentially delaying diagnosis and prognostication.

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An 81-year-old man with a history of hypertension, alcohol use disorder, and obstructive sleep apnea presented with 8 weeks of diplopia, followed by progressive gait instability, visual hallucinations, and cognitive decline. Neurological examination revealed disorientation, dysarthria, and restricted gaze, most prominent in the upward direction. Gaze was grossly conjugate, but the patient reported binocular horizontal diplopia, although he was unable to complete red lens testing. Differential diagnosis included Wernicke-Korsakoff encephalopathy. Initial workup was unremarkable including a normal brain magnetic resonance imaging (MRI), non-diagnostic Electroencephalogram (EEG), and bland cerebrospinal fluid (CSF). He had rapid neurologic deterioration with development of myoclonus over the subsequent two weeks. Repeat MRI demonstrated restricted diffusion on diffusion-weighted imaging (DWI) in the bilateral caudate nuclei and anterior thalami. CSF analysis was ultimately positive for real-time quaking-induced conversion (RT-QuIC) assay, with markedly elevated total tau (17,669 pg/mL) and 14-3-3 protein (134,381 AU), confirming CJD.

This case illustrates a rare manifestation of CJD presenting with supranuclear gaze palsy. Recognition of atypical oculomotor findings in rapidly progressive cognitive decline should prompt early consideration of prion disease, facilitating timely diagnosis, prognostication, and family counseling.