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Patrick Vincent Marloth1, Martin Riis Ladefoged2, Magnus Spangsberg Boesen1

  • 1Neurologisk Afdeling, Sjællands Universitetshospital, Roskilde.

Ugeskrift for Laeger
|March 9, 2023
PubMed
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Creutzfeldt-Jakob disease, a rare prion disorder, can present with subtle neurological decline. This case highlights cerebellar dysfunction and visuospatial deficits as key indicators in an elderly patient.

Area of Science:

  • Neurology
  • Neuroscience
  • Prion Diseases

Background:

  • Creutzfeldt-Jakob disease (CJD) is the most prevalent human prion disease.
  • It is characterized by progressive neurodegeneration, leading to severe neurological impairment.
  • Neuropsychiatric symptoms and specific objective neurological findings are common.

Observation:

  • A case report details a 77-year-old woman experiencing gradual onset of recurrent falls.
  • The patient exhibited significant cerebellar dysfunction and severe visuospatial difficulties.
  • Notably, she demonstrated a lack of awareness regarding her deficits.

Findings:

  • Cerebellar dysfunction was a primary clinical manifestation.
  • Magnetic Resonance Imaging (MRI) revealed restricted diffusion in the caudate and lentiform nuclei.

Related Experiment Videos

  • A positive cerebrospinal fluid real-time quaking-induced conversion (RT-QuIC) test confirmed the diagnosis.

    • Implications:

    • This case underscores the importance of recognizing cerebellar dysfunction in elderly patients presenting with falls.
    • Early diagnostic markers, such as RT-QuIC, are crucial for timely Creutzfeldt-Jakob disease diagnosis.
    • Understanding the varied clinical presentations of CJD aids in differential diagnosis and patient management.