Creutzfeldt-Jakob disease: A case report and literature review for understanding the big picture

Abstract

Creutzfeldt-Jakob disease (CJD) is a rare, rapidly progressive neurodegenerative disorder that has an invariably fatal outcome. Aside from rapidly progressive dementia, this condition manifests as myoclonus, cerebellar, pyramidal, extrapyramidal, visual, and psychiatric symptoms. On the other hand, nonspecific symptoms might be difficult to diagnose, leading to a late or incorrect diagnosis. Given its high fatality, most patients die within 12 months of the disease's onset. This case report describes a healthy man who presented with cerebellar and pyramidal signs along with memory loss worsening over six weeks. He also had indications of corticobasal degeneration, such as myoclonus and alien limb syndrome, but with reasonably maintained cognition. These signs are all non-specific, and premortem diagnosis is typically difficult and challenging owing to a lack of knowledge and clinical suspicion. However, after a thorough and extensive investigation, CJD was diagnosed. Despite the fact that CJD is a rare disease, it should always be included in the differential diagnosis whenever neuropsychological manifestations are present. Nevertheless, CJD can be successfully and promptly ruled out with a detailed clinical examination and appropriate investigation.