Creutzfeldt-Jakob disease (CJD)

Case contributed by A.Prof Frank Gaillard

Presentation

Progressive "giddiness" and dementia.

Patient Data

Age: 70
Gender: Female
Modality: MRI

There is diffusion restriction involving the left frontal cortex, predominantly anteriorly and in a parafalcine position. There is some mild parafalcine left parietal cortical diffusion restriction. Further diffusion restriction of the left caudate head is present, and there is faint diffusion restriction involving the left putamen and the right head of caudate and putamen. No convincing white matter involvement. There is mild corresponding high FLAIR and T2 signal intensity in these regions.

No other intra or extraaxial abnormality. No mass-effect. Ventricles and sulci are within normal limits for age. No posterior fossa abnormality.

No suspicious enhancing lesions, in particular no parenchymal or leptomeningeal enhancement.

Diffuse myelomatous deposits involving the calvarium again noted.

Conclusion:

1. Diffusion restriction involving the left frontoparietal cortex and left caudate head. The pattern of diffusion restriction and abnormality is suspicious for Creutzfeldt-Jakob disease. 

2. No evidence of intracranial myelomatous involvement.

3. Calvarial myelomatous involvement.

Case Discussion

This patient went on to have confirmatory CSF and EEG. 

Cerebrospinal Fluid

  • Csf Protein 0.49H g/L 0.15-0.45
  • Csf Glucose 4.8 mmol/L 2.5-5.0
     
  • CELL COUNT: x10^6/L
    • Erythrocytes 0
    • Polymorphs 0
    • Lymphocytes 0
       
  • ​​​HERPES VIRUS MULTIPLEX PCR Result: VIRUS DNA NOT DETECTED
    • COMMENT: Viruses screened with this PCR are: HSV-1, HSV-2, CMV & VZV.
  • Polyomavirus DNA by PCR: Not detected
     
  • CJD Protein (14-3-3): POSITIVE
    • 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.

 

 

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Case Information

rID: 29392
Case created: 22nd May 2014
Last edited: 28th Oct 2015
Tag: cjd
Inclusion in quiz mode: Included

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