Sporadic Creutzfeldt-Jakob disease causing a 2-years slowly progressive isolated dementia

Behav Neurol. 2009;21(3):175-9. doi: 10.3233/BEN-2009-0238.

Abstract

A 47-year-old woman was seen for progressive behavioural and cognitive disturbances slowly evolving over a 1-year period. Neuropsychological evaluation disclosed moderate to severe impairment of all cortical functions. Besides this no other clinical abnormality was found. MRI diffusion weighted imaging disclosed hyperintense cortical lesions in a ribbon-like fashion, with restricted diffusivity. EEG showed no periodic sharp waves and CSF examination was normal, including protein 14.3.3. She was heterozygote on codon 129. Her cognitive function continued to decline and she was readmitted for further investigation at the 24th month of disease. Again no ataxia or involuntary movements were observed. MRI disclosed widespread hyperintense lesions over the entire cortex and, for the first time, also caudato-putaminal hyperintensity in T2-weighted images. EEG again failed to show periodic activity. Stereotactic biopsy disclosed moderate spongiform changes, astrocytosis and perivacuolar staining with prion-directed antibodies. Western blot analysis revealed prion type 2 mobility pattern. We discuss the clinical significance of this case: as dementia was the sole finding, and this was slowly-evolving over a 2-year period, MRI findings were the key factor suggesting a prion disease in a woman that otherwise would probably be diagnosed with a primary degenerative dementia.

Publication types

  • Case Reports

MeSH terms

  • Blotting, Western
  • Brain / pathology
  • Brain / physiopathology
  • Creutzfeldt-Jakob Syndrome / complications*
  • Creutzfeldt-Jakob Syndrome / pathology
  • Creutzfeldt-Jakob Syndrome / physiopathology
  • Dementia / etiology*
  • Dementia / pathology
  • Dementia / physiopathology
  • Diagnosis, Differential
  • Diffusion Magnetic Resonance Imaging
  • Disease Progression
  • Electroencephalography
  • Female
  • Humans
  • Magnetic Resonance Imaging
  • Middle Aged
  • Neuropsychological Tests
  • Time Factors