A Case Report of Probable Sporadic Creutzfeldt-Jakob Disease: How to Approach Early Diagnosis?

Abstract

Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare and fatal spongiform encephalopathy characterized by rapidly progressive dementia and myoclonus. The rarity of this disease and varied initial symptoms make the early diagnosis fairly challenging. Here, we present a case initially admitted for confusion and bizarre behaviors. She had acute deterioration of mental status, akinetic mutism, and myoclonus jerks four weeks later. Cerebrospinal fluid (CSF) analysis was positive for protein 14-3-3. Brain magnetic resonance imaging (MRI) showed hyperintensities in the bilateral cortex, basal ganglia, and thalami in diffusion-weighted imaging (DWI). Electroencephalogram (EEG) showed bihemispheric periodic lateralizing epileptiform discharges. The probable diagnosis of sCJD was reached based on the clinical features, characteristic findings in her MRI, the EEG, and a positive 14-3-3 CSF assay. The literature was also reviewed for early diagnosis of sCJD.

Sporadic Creutzfeldt-Jakob disease: a case report of long disease duration and difficulties in confirming the diagnosis with short literature review

“…The commonly reported neurological abnormalities include the visual changes leading to cortical blindness, ataxia, pyramidal and extrapyramidal features and usually an akinetic mutism in the last stages of the disease [7]. The atypical findings such as behavioural abnormalities (anxiety, irritability, social withdrawal), subtle memory changes, judgment difficulties, and other psychiatric symptoms, are frequently observed in the early stages of the disease but can be easily overlooked [12].…”

“…The acquired form of CJD (including iCJD and vCJD) occurs in 2-5% of cases [12]. The form iCJD is a consequence of transmission of abnormal prion protein during medical procedures.…”

Rapidly progressive encephalopathy with evidence of spongiform encephalopathy through biopsy

“…Creutzfeldt-Jakob disease (CJD) is the most common type (85% of cases) followed by Gertsman-Straüssler-Scheinken disease, lethal familial insomnia, and Kuru. 1 , 2 , 3 , 4 …”