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The MM2-cortical form of sporadic Creutzfeldt-Jakob disease presenting with visual disturbance

I Nozaki1, T Hamaguchi, M Noguchi-Shinohara

  • 1Department of Neurology and Neurobiology of Aging, Kanazawa University Graduate School of Medical Science, 13-1 Takara-machi, Kanazawa, Ishikawa 920-8640, Japan. ichi51@med.kanazawa-u.ac.jp

Neurology
|August 9, 2006
PubMed

Insights

This study identifies a rare MM2-cortical sporadic Creutzfeldt-Jakob disease (sCJD) case presenting with initial visual disturbances. Early diffusion-weighted MRI showed occipital lobe hyperintensity, suggesting a distinct subtype presentation.

Area of Science:

  • Neuroscience
  • Neuropathology
  • Radiology

Background:

  • Sporadic Creutzfeldt-Jakob disease (sCJD) subtypes are classified based on prion protein genotype and molecular characteristics.
  • The Heidenhain variant of sCJD, marked by initial visual symptoms, is typically associated with MM1 or MV1 subtypes.

Observation:

  • A 65-year-old woman presented with slowly progressive visual disturbance as her primary symptom.
  • This patient was diagnosed with the MM2-cortical subtype of sporadic Creutzfeldt-Jakob disease.

Findings:

  • Diffusion-weighted magnetic resonance imaging (MRI) demonstrated early-stage hyperintensity in both occipital cortices.
  • This finding contrasts with the typical MRI findings for other sCJD subtypes presenting with visual symptoms.

Implications:

  • The MM2-cortical subtype of sCJD may manifest with visual symptoms, expanding the known clinical spectrum.
  • Early recognition of occipital lobe abnormalities on MRI is crucial for diagnosing atypical sCJD presentations.
  • This case highlights the importance of considering diverse prion disease subtypes in patients with unexplained visual decline.

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