Volume 21, Number 5—May 2015
CME ACTIVITY - Perspective
Recent US Case of Variant Creutzfeldt-Jakob Disease—Global Implications
, Michael Fischer, Pierluigi Gambetti, Alicia Parker, Aarthi Ram, Claudio Soto, Luis Concha-Marambio, Yvonne Cohen, Ermias D. Belay, Ryan A. Maddox, Simon Mead, Clay Goodman, Joseph S. Kass, Lawrence B. Schonberger, and Haitham M. Hussein
Table 1
Relevant studies for the diagnosis of vCJD, United States*
| Test† | Result (reference range) |
|---|---|
| Blood‡ | |
| Albumin, g/dL | 2.3–4.1 (3.4–5.0) |
| Ammonia, μmol/L | 31 (11–32) |
| Anti-thyroglobulin antibody, IU/mL | <1.0 (0.0–0.9) |
| Anti-thyroid peroxidase antibodies, IU/mL | 5 (0–34) |
| Ceruloplasmin, mg/dL | 32.5 (20.0–60.0) |
| Creatine kinase, U/L | 39–257 (0.6–1.3) |
| C-reactive protein, mg/dL | 0.098 (0.0–0.3) |
| Erythrocyte sedimentation rate, mm/h | 7 (0–15) |
| Ethanol level, g/dL | Undetectable (0.0–0.08) |
| Hemoglobin A1c, % | 5.0 (4.3–6.1) |
| Protein, g/dL | 5.1–7.8 (6.4–8.2) |
| Rapid plasma reagin | Nonreactive |
| Toxoplasma IgG, IU/mL; IgM, AU/mL | <3.0, <3.0 (<5.9, <7.9) |
| Thyroid stimulating hormone, U/mL | 1.78 (0.36–3.74) |
| Vitamin B1, nmol/L | 254.5 (66.5–200.0) |
| Vitamin B12, pg/mL |
597–926 (211–911) |
| Cerebrospinal fluid§ | |
| Electrophoresis | No oligoclonal bands |
| Glucose, mg/dL | 46–53 (50–80) |
| Protein, mg/dL | 90.0–204.2 (15–45) |
| Erythrocytes, cells/μL | 1–2 (0) |
| Leukocytes, cells/μL | 1–3 (0–5) |
| Angiotensin converting enzyme, U/L | 1.5 (0.0–2.5) |
| Epstein-Barr virus PCR | Not detected |
| Herpes simplex viruses 1 and 2 | Not detected |
| VDRL | Nonreactive |
| Stain | No organisms found |
| Culture |
No growth |
| Other diagnostic tests | |
| Electroencephalography x3 | Mild to moderate diffuse slowing; no epileptiform activity |
| MRI brain | 14 mo after initial symptoms: bilateral T2 hyperintensities in the thalamic pulvinar nuclei and, to a lesser extent, in the caudate and lentiform nuclei. Subtle cortical ribbon sign over the right motor cortex |
| At 15 mo: persistent pulvinar and cortical ribbon sign; resolution of caudate and lentiform nuclei T2 hyperintensities | |
| At 16 mo: persistent pulvinar and cortical ribbon sign, with interval development of subtle T1 hyperintensities | |
| MRI, C/T/L-spine | Cervical and lumbar spondylosis; no cord compression |
| CT angiogram head and neck | No intracranial vascular abnormalities; mild large vessel atherosclerotic disease without significant stenosis |
| CT chest/abdomen/ pelvis; scrotal ultrasound: |
No malignancy detected |
| CJD-specific laboratory tests | |
| Blood | |
| PRNP genotype | Codon 129 methionine homozygous; otherwise no mutations |
| Direct detection assay | Negative |
| Urine PMCA | Positive for scrapie prion protein |
| Cerebrospinal fluid | |
| 14-3-3 protein | Negative |
| Tau protein, pg/mL | 358, negative |
| RT-QuIC | Negative |
*Includes tests that rule out vCJD mimics. Routine serum electrolytes and cell counts were otherwise normal. CJD, Creutzfeldt-Jakob disease; CT, computed tomography; MRI, magnetic resonance imaging; PMCA, protein misfolding cyclic amplification; RT-QuIC, real-time quaking-induced conversion; vCJD, variant CJD; VDRL, Venereal Disease Research Laboratory.
†Urinalyses were negative for heavy metals, drug toxicity, and copper.
‡Blood tests for antinuclear antibody, antineuronal nuclear antibody (ANNA1, Anti-Hu antibody), anti-Purkinje cell antibody (anti-Yo antibody), anti-smooth muscle/ribonucleoproteins; anti-Sjögren’s-syndrome-related antigen A, and anti-Sjögren’s-syndrome-related antigen B, Aspergillus antibody, Blastomyces antibody, Coccidiodes antibody, hepatitis panel, HIV-1/HIV-2, and Borrelia burgdorferi PCR were all negative.
§Negative for cryptococcal antigen; IgM against West Nile virus, St. Louis encephalitis virus, California encephalitis virus, eastern equine encephalitis, western equine encephalitis virus, and West Nile virus; fluorescent treponemal antibody; and autoimmune/paraneoplastic panel (Dalmau).