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[Heidenhain's variant of Creutzfeldt-Jakob's disease]

M Fauquembergue1, C Tilikete, A Perret-Liaudet

  • 1Unite de Neuro-ophtalmologie et service de Neurologie D, Hospices Civils de Lyon, Hôpital Neurologique Pierre-Wertheimer, Bron.

Revue Neurologique
|August 19, 2005
PubMed

Insights

Heidenhain’s variant of Creutzfeldt-Jakob disease (CJD) presents with initial visual disturbances. Early diagnosis and prevention of iatrogenic transmission during eye exams are crucial for this rare CJD form.

Area of Science:

  • Neurology
  • Ophthalmology
  • Prion Diseases

Background:

  • Creutzfeldt-Jakob disease (CJD) exhibits diverse clinical presentations.
  • The Heidenhain variant is a rare form characterized by prominent initial visual symptoms.
  • These visual symptoms can mimic primary ophthalmological conditions, necessitating thorough differential diagnosis.

Observation:

  • A case of a 75-year-old woman with rapidly progressing isolated visual disorders over two months is presented.
  • Development of neurological symptoms, electroencephalogram (EEG) abnormalities, and positive 14-3-3 protein supported the CJD diagnosis.
  • The patient succumbed 14 months after symptom onset, with post-mortem examination confirming type 1 prion protein.

Findings:

  • The Heidenhain variant of CJD can present with isolated visual disturbances.
  • Diagnostic confirmation relies on clinical presentation, EEG, CSF biomarkers (14-3-3 protein), and ultimately post-mortem prion protein analysis.
  • This case underscores the diagnostic challenges posed by visual-predominant CJD.

Implications:

  • Highlights the importance of considering CJD in patients with unexplained, progressive visual loss.
  • Emphasizes the need for strict adherence to infection control protocols during ophthalmological procedures to prevent iatrogenic CJD transmission.
  • Underscores the critical role of neuroimaging and biomarker analysis in early CJD diagnosis.
Abstract

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