Creutzfeldt-Jakob disease (CJD)

Case contributed by A.Prof Frank Gaillard

Presentation

3 months cerebellar ataxia, cognitive decline

Patient Data

Age: 65
Gender: Male
Modality: MRI

There is prominent diffusion restriction of essentially the whole left caudate nucleus. Suspected subtle diffusion restriction along the right caudate and bilateral thalami, the latter particularly in the region of the left pulvinar. Associated increased T2 signal of the left caudate nucleus, as well as in the putamina and to a lesser extent thalami. No mass-effect.

Sulci are borderline prominent for age. No selective brainstem or cerebellar atrophy. At least one small old infarct noted in the right cerebellar hemisphere. Several small punctate foci of FLAIR hyperintensity in the supratentorial white matter most probably represents mild small vessel ischaemia.

Mild mineralisation of the globus pallidi. Paranasal sinus mucosal disease, left greater than right.

Conclusion

Although asymmetric, findings are most suspicious for CJD

Case Discussion

The patient went on to have a number of diagnostic tests. 

CSF

  • Smears contain occasional lymphocytes, monocytes and red blood cells.
  • No malignant cells identified.
  • 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 specificity 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.

 

Blood tests

  • Caeruloplasmin 0.2 g/L (normal: 0.20-0.60)
  • Vit B12 394 pmol/L (normal: 140-650)
  • Ser Fol 24.5 nmol/L (normal: >7.0)
  • HIV-1/2 Ag/Ab Combo by Architect: Negative
  • Syphilis-TP (by Architect) : Not Detected

 

Discussion

Typical radiology with supportive CJD protein in CSF and lack of other explanatory abnormalities confirms the diagnosis of Creutzfelt-Jakob disease

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Case Information

rID: 31292
Case created: 30th Sep 2014
Last edited: 28th Oct 2015
Inclusion in quiz mode: Included

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