Creutzfeldt-Jakob disease (CJD)
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 recognized 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
- Ceruloplasmin 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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