A Case Series of RT-QuIC Positive Sporadic Creutzfeldt-Jakob Disease-First Two Cases from Malaysia

Abstract

Creutzfeldt-Jakob disease (CJD) is invariably a fatal neurodegenerative disorder that presents rapidly progressive dementia with multifaceted involvement of the nervous system. In this case series, we present case reports of two elderly patients diagnosed with sporadic CJD who presented with rapid progression of cognitive decline and myoclonus. Supportive findings on further investigations included cortical ribboning on diffusion-weighted MRI brain; generalised periodic complexes on electroencephalogram with positive cerebrospinal fluid 14-3-3 and pathogenic prion protein (PrPSc) detection on RT QuIC confirming the diagnosis of sporadic CJD in both cases to a great extent.