Creutzfeldt-Jakob Disease (CJD), Variants

KEY FACTS

Terminology

• Important clinicopathologic Creutzfeldt-Jakob disease (CJD) variants

  • Heidenhain variant CJD

    • –

      Visual variant of CJD

    • –

      Early isolated visual symptoms

  • Brownell-Oppenheimer variant (rare)

    • –

      Pure cerebellar syndrome

Imaging

• FLAIR

  • Subtle cortical hyperintensity in occipital lobes (“cortical ribbon”)

  • Basal ganglia usually normal

• DWI

  • Most sensitive for early detection (look for restriction in “cortical ribbon”)

  • Occipital cortex hyperintensity

• T1 C+: No enhancement

• FDG-PET occipital hypometabolism

Top Differential Diagnoses

• Heidenhain variant CJD

  • Posterior cerebral artery ischemia/infarction

    • –

      Typically involves both cortex, white matter

  • Posterior cortical atrophy

    • –

      Does not restrict on DWI

• Brownell-Oppenheim variant of CJD

  • Other cerebellar degeneration syndromes

Clinical Issues

• Heidenhain variant CJD

  • Visual field defects

  • Abnormal color or visuospatial perception

  • Visual hallucinations

  • Visual neglect, agnosia

  • Dementia, ataxia, or myoclonus later

  • Rare: Isolated eye-movement abnormalities

TERMINOLOGY