Clinical experiences with Creutzfeldt-Jakob disease: three case studies

Ideggyogy Sz. 2012 Nov 30;65(11-12):401-10.

Abstract

The clinical picture, electroencephalographic, imaging and cerebrospinal fluid parameters as well as the molecular background of Creutzfeldt-Jakob disease have been well explored. The diagnostic criteria, offering clinicians a fair chance to identify these patients in vivo, have recently been updated. However, the diagnosis is still a challenge in everyday neurological routine. We report on three of our Creutzfeldt-Jakob patients for calling attention to the classical and the recently defined features of the disease. We conclude that based on the rapidly progressing neuropsychiatric syndrome Creutzfeldt-Jakob disease may be suspected; follow-up EEG may reveal the typical (pseudo)-periodic pattern with progressive deterioration of the background activity. In addition, diffusion-weighted brain MRI imaging (DWI) has high diagnostic value. Detection of 14-3-3 protein in the cerebrospinal fluid supports the in vivo diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Autopsy
  • Brain / pathology*
  • Cerebellar Ataxia / etiology
  • Creutzfeldt-Jakob Syndrome / complications
  • Creutzfeldt-Jakob Syndrome / diagnosis*
  • Creutzfeldt-Jakob Syndrome / genetics
  • Creutzfeldt-Jakob Syndrome / physiopathology
  • Diagnosis, Differential
  • Electroencephalography*
  • Fatal Outcome
  • Female
  • Glutamic Acid
  • Humans
  • Lysine
  • Magnetic Resonance Imaging*
  • Male
  • Middle Aged
  • Mutation*
  • Prion Proteins
  • Prions / genetics*
  • Seizures / etiology
  • Speech Disorders / etiology

Substances

  • PRNP protein, human
  • Prion Proteins
  • Prions
  • Glutamic Acid
  • Lysine