Creutzfeldt-Jacob disease (CJD)

Case contributed by A.Prof Frank Gaillard

Presentation

Four weeks rapid decline in cognition and fluctuating conscious state and labile mood.

Patient Data

Age: 80
Gender: Female
Modality: MRI

There is cortical restricted diffusion within the left frontal, parietal and occipital lobes as well as within the right parietal lobe. There is possible minor FLAIR hyperintensity within the left frontal cortex, however no cortical swelling is identified.

No abnormal contrast enhancement. No MRA abnormality.

Extensive bilateral T2/FLAIR white matter hyperintensities are most likely consistent with extensive chronic small vessel ischaemia. Cerebral volume is commensurate with age.

Conclusion:

Findings are suggestive of sporadic CJD.

EEG

Modality: Diagram

EEG demonstrates characteristic periodic triphasic activity

Case Discussion

Cerebrospinal fluid (CSF)

  • CJD Protein (14-3-3): POSITIVE
  • Protein 0.47H g/L (normal <0.45)
  • Glucose 4.1H mmol/L (normal 2.2-3.9)

COMMENT: The 14-3-3 protein is a non-specific marker of central nervous system neuronal injury or death. Based on international experience in carefully selected patients, a positive result has approximately 90% sensitivity and specificiy for sporadic Creutzfeldt-Jacob disease. "False" positives are frequently recognised in encephalitis (especially Herpes simplex) & recent cerebral infarcts. Based on 120 definite (pathologically proven) sporadic patients, total CSF protein >1.0g/L is rarely seen (<1%) in uncomplicated CJD, while total CSF white cell count is never >10 cells/uL.

Typical presentation, imaging and EEG findings of CJD.

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Case Information

rID: 29461
Case created: 26th May 2014
Last edited: 28th Oct 2015
Inclusion in quiz mode: Included

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