Sporadic Creutzfeldt–Jakob disease presenting as stroke mimic

Abstract

A hypertensive 75-year-old woman with hypertrophic cardiomyopathy, hypercholesterolaemia and paroxysmal atrial fibrillation was referred to the author's neurovascular clinic with sudden onset word-finding difficulty and right-sided weakness. Examination confirmed mild right pyramidal drift and expressive dysphasia in an otherwise relatively independent patient. Computed tomography (CT) confirmed a lacunar infarct involving the posterior limb of the internal capsule (Figure 1). Neurorehabilitation afforded initial improvement, but her family reported deterioration in concentration, coordination and continence control with emotional lability over the next 4 weeks, prompting hospital admission. On examination, she was bedbound, with severe expressive dysphasia (abbreviated mental test score 0/10), dysphagia, global weakness, hypertonia, hyperreflexia and bilateral upper limb myoclonus (more on the right hand side). Repeat CT confirmed previous findings. Lumbar puncture was acellular with a protein count of 0.42 g/dl. Sequential electroencephalograms (EEGs) demonstrated bilateral periodic lateralized epileptiform discharges which were abolished by intravenous lorazepam suggesting nonconvulsive status epilepticus. However, deterioration continued despite antiepileptic therapy. Magnetic resonance imaging demonstrated bilateral putamen and caudate nucleus enhancement on T2 FLAIR with left temporal lobe cortical ribboning on diffusion weighted imaging (Figures 2 and 3). A subsequent EEG showed an evolving picture, with bilateral triphasic waves (1Hz) (Figure 4) compatible with a diagnosis of probable sporadic Creutzfeldt–Jakob disease. This was supported with a positive cerebrospinal fluid 14-3-3 protein assay. The patient died 59 days after the initial presentation. No tissue diagnosis was made.