Atypical Presentation of Creutzfeldt-Jakob Disease: A Stroke Mimic

TL;DR

A woman with atypical symptoms of Creutzfeldt-Jakob disease was diagnosed using advanced imaging and specialized tests.

Contribution

This case highlights the atypical presentation of CJD and the importance of advanced diagnostic tools.

Findings

MRI showed bilateral diffusion restriction in the basal ganglia and thalami.

CSF RT-QuIC testing confirmed prion disease.

Symptoms included cerebellar and ocular-motor features.

Abstract

A 56-year-old woman presented with a five-week history of unsteadiness, progressive diplopia, tremulous speech, and mild cognitive decline. Although initial computed tomography (CT) imaging was normal, magnetic resonance imaging (MRI) revealed bilateral diffusion restriction in the basal ganglia and thalami, raising suspicion for prion disease, which was subsequently confirmed by cerebrospinal fluid real-time quaking-induced conversion (CSF RT-QuIC) testing. A neurological examination showed saccadic intrusions, persistent horizontal diplopia, mild limb hypertonia, right-sided dysmetria, absent ankle reflexes, and ataxic gait, while extensive metabolic, autoimmune, and toxicology evaluations were unremarkable and family history was noncontributory. This atypical presentation, initially dominated by cerebellar and ocular-motor features, highlights the diagnostic challenges of early Creutzfeldt-Jakob disease (CJD) and the value of advanced neuroimaging and specialized assays, as well as the importance of coordinated multidisciplinary care following diagnosis.

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