Systematic approach to diagnosing suspected Creutzfeldt-Jakob disease

BMJ Case Rep. 2023 Dec 7;16(12):e255174. doi: 10.1136/bcr-2023-255174.

Abstract

Evaluation of rapidly progressive dementia (RPD) is usually challenging. In most cases, patients progress to dementia in weeks to months, and the differential diagnosis is broad. In this case, a woman in her 60s presented with a 1-month history of episodic vertigo, cognitive decline, ataxia and myoclonus. Cerebrospinal fluid total tau was markedly elevated, which was helpful in establishing the diagnosis and discussing prognosis/end-of-life measures with the patient's family. This case summarises a stepwise diagnostic approach for patients with RPD and highlights recent literature on biomarkers of Creutzfeldt-Jakob disease and autoimmune encephalitis.

Keywords: Brain stem/cerebellum; Movement disorders (other than Parkinson's); Neuroimaging; Variant Creutzfeldt-Jakob disease.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers / cerebrospinal fluid
  • Cognitive Dysfunction* / diagnosis
  • Creutzfeldt-Jakob Syndrome* / cerebrospinal fluid
  • Creutzfeldt-Jakob Syndrome* / diagnosis
  • Diagnosis, Differential
  • Encephalitis* / diagnosis
  • Female
  • Humans
  • Myoclonus* / diagnosis

Substances

  • Biomarkers