DOI: https://doi.org/10.36347/sasjm.2026.v12i04.007

Pages: 272-273

Creutzfeldt-Jakob disease (CJD) is a rare CNS disorder which is notoriously known to be rapidly progressive. There are various types of CJD: (a) Iatrogenic CJD: Caused due to duramater graft or human growth hormone from infected individuals (b) Familial CJD: caused due to genetic mutations in PRNP gene located on chromosome 20 (c) Variant CJD: caused due to consumption of beef from cattle infected with Bovine Spongiform Encephalopathy (d) Sporadic CJD: most commonly form type of CJD where cause remains unknown (85%) The disease usually presents itself with rapidly progressive dementia, myoclonus, cerebellar ataxia and visual disturbances. This presentation is very similar to autoimmune encephalitis and steroid induced encephalitis and requires specific diagnostic tests. The gold standard for diagnosis is through brain biopsy which though helpful in autopsies is not a feasible option in living patients. An MRI showing cortical ribboning and EEG with periodic sharp wave complexes are usually seen. This is backed with Real Time Quaking Induced Conversion (RT-QUIC) assay which is specific to protease resistant prions scrapie isoform (Prpsc). The following case report highlights a classical presentation of sporadic CJD which was diagnosed in the absence of newer diagnostic methods like RT-QUIC and managed with symptomatic treatment.