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

Alvaro Machado1, Manuel Ribeiro, Margarida Rodrigues

  • 1Neurology Department, Hospital de São Marcos, Largo Carlos Amarante, Braga, Portugal. alvmac@gmail.com

Behavioural Neurology
|December 10, 2009
PubMed

Insights

This case highlights a rare prion disease presenting solely as slowly progressive dementia. Diffusion-weighted MRI was crucial for diagnosis, revealing characteristic cortical lesions.

Area of Science:

  • Neurology
  • Neuroscience
  • Pathology

Background:

  • Prion diseases are a group of fatal neurodegenerative disorders characterized by progressive neurological decline.
  • Typical clinical presentations include rapidly progressive dementia, ataxia, and myoclonus, often with characteristic EEG findings.

Observation:

  • A 47-year-old woman presented with a 1-year history of progressive behavioral and cognitive disturbances, with moderate to severe cortical dysfunction.
  • Initial investigations, including EEG and CSF analysis, were unremarkable. MRI revealed ribbon-like cortical hyperintensities on diffusion-weighted imaging.
  • At 24 months, cognitive decline persisted with no ataxia or involuntary movements. MRI showed widespread cortical and new caudate-putamen hyperintensities. EEG remained non-specific.

Findings:

  • Stereotactic brain biopsy demonstrated spongiform changes, astrocytosis, and prion protein deposition.
  • Western blot analysis confirmed a prion type 2 mobility pattern.
  • Genetic analysis revealed heterozygosity at codon 129.

Implications:

  • This case underscores the diagnostic challenge of prion diseases presenting with dementia as the sole initial symptom.
  • The slow evolution over two years and lack of typical features initially suggested a primary degenerative dementia.
  • Diffusion-weighted MRI findings were pivotal in suspecting prion disease, guiding further diagnostic steps and biopsy.
  • This case expands the clinical spectrum of prion diseases, emphasizing the importance of advanced neuroimaging in atypical presentations.

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