Sporadic Creutzfeldt-Jakob Disease: Finding the Needle in the Haystack

Cureus. 2024 Jul 15;16(7):e64548. doi: 10.7759/cureus.64548. eCollection 2024 Jul.

Abstract

Sporadic Creutzfeldt-Jakob disease (SCJD) is a rare neurodegenerative disease with a very low prevalence. The aetiology is theorised to be genetic. Modern laboratory techniques, such as the real-time quaking-induced conversion (RT-QuIC) assay, have allowed us to diagnose CJD with greater sensitivity and specificity. Previously, the diagnosis rested primarily on a post-mortem brain biopsy. Although advancements in laboratory techniques have allowed earlier diagnosis of CJD, the treatment is still supportive. Research is still ongoing for a curative treatment, but so far, the fatality rate remains at 100%. Early vague symptoms of CJD delay the diagnosis further, as multiple pathologies need to be ruled out before consideration of the diagnosis of CJD. This case report describes a similar case of sporadic CJD diagnosed in an otherwise fit and well patient.

Keywords: creutzfeld-jakob disease; gait disturbance; memory issues; neuro-psychiatric; personality disrders.

Publication types

  • Case Reports