ABSTRACT

Creutzfeldt-Jakob Disease (CJD) is a rare neurodegenerative disease that causes a rapidly progressive dementia, and it can be classified as sporadic, heritable, and variant (acquired). In this paper, we report a case mimicking variant CJD, with phenotypic presentation and findings. A 44-year-old man was admitted to the emergency department with progressive neuropsychiatric symptoms and myoclonus. Signal hyperintensity in the bilateral basal ganglia and thalamus was detected via fluid attenuated inversion recovery (FLAIR) sequence and diffusion weighted magnetic resonance. 14.3.3 protein in cerebrospinal fluid was negative, and electroencephalography was atypical for sporadic CJD. After the diagnostic tests and follow-up, the patient was diagnosed with probable sporadic CJD, based on the World Health Organization’s (WHO) diagnostic criteria. His health deteriorated rapidly, and the patient died 2 months after the diagnosis. In this paper, we point out the differences between and the signs of variant CJD and sporadic CJD. When pathological confirmation is not possible, as in case of our patient, it is very helpful to consider the WHO diagnostic criteria. Variant CJD is a disorder that has not been reported in Turkey yet. Its diagnosis and reporting require direct interventions by the health and veterinary authorities.

Keywords: Prion, variant Creutzfeldt-Jakob Disease, pulvinar sign