Sporadic Creutzfeldt–Jakob Disease

Abstract

Sporadic Creutzfeldt–Jakob disease is a rare and fatal human prion disease characterized by a rapidly progressive dementia, myoclonus, cerebellar, pyramidal, extrapyramidal, visual, and psychiatric symptoms. These findings are all non-specific and making diagnosis is often difficult at the symptoms onset, especially in case of atypical clinical and radiological presentation. This case report describes a woman in her 60s, who presented with rapid cognitive decline, confusion, ataxia and electroencephalographic changes compatible with nonconvulsive status epilepticus. Her symptoms progressively worsened and she died 8 weeks after the onset. The two cerebrospinal fluid analyses were normal and no 14-3-3 protein was detected. The brain MRls revealed areas of cortical restricted diffusion involving the right frontal and parietal lobe. The electroencephalographic findings of continuous periodic generalized bi-triphasic complexes, typical for sporadic Creutzfeldt–Jakob disease, were detected 1 month after the onset. Sporadic Creutzfeldt–Jakob disease was neuropathologically confirmed. Although sporadic Creutzfeldt–Jakob disease is a rare neurodegenerative disease, it should be considered in the differential diagnosis of all cases with unexplained and rapid cognitive decline and confusion, along with ataxia, pyramidal/ extrapyramidal signs, myoclonus and dysphagia.

Keywords

• sporadic creutzfeldt–jakob disease
• prion disease
• brain autopsy
• electroencephalo-gram