Variant Creutzfeldt-Jakob disease

Status: 
Ready to upload
Record number: 
1382
Adverse Occurrence type: 
MPHO Type: 
Estimated frequency: 
Unable to establish, very rare
Time to detection: 
5 - 8.3 years
Alerting signals, symptoms, evidence of occurrence: 
Case 1: Recipient described as having clinical symptoms of vCJD such as withdrawal, irritability, depression, shuffling gait and falls, blurred vision, shoot paind, fidgety, difficulty with motor tasks, cognitive impairment, dyspraxia, extensor plantor responses. The recipient died 13 months after onset of illness, was a codon 129 PRNP methionine homozygote. Case 2: Recipient died of non-neurological causes, and is considered a subclinical case. Case 3: Recipient described as having clinical symptoms of vCJD, though symptoms not specified in report. The recipient is a codon 129 PRNP methionine homozygote. The donor is the same donor as for Case 4. Case 4: Recipient described as having clinical symptoms of vCJD, though symptoms not specified in report; the donor is the same donor as for Case 3.
Demonstration of imputability or root cause: 
Case 1: donor developed clinical symptoms of vCJD confirmed 40 months after index donation; autopsy confirmed; recipient is a codon 129 PRNP methionine homozygote. Case 2: donor developed clinical symptoms of vCJD; the recipient is a codon 129 PRNP methionine heterozygote; autopsy revealed the presence of PrP in spleen and a cervical lymph node. No PrP was found in brain tissue. Case 3: donor developed clinical symptoms of vCJD 21 months after index donation; autopsy confirmed; recipient is a codon 129 PRNP methionine homozygote; donor is the same donor as in Case 4. Case 4: donor developed clinical symptoms of vCJD; donor is the same donor as in Case 3.
Imputability grade: 
2 Probable
Suggest new keywords: 
vCJD from blood transfusion
Suggest references: 
NEW! 1) Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report. Wroe et al. Lancet. 368(9552):2061-7, 2006 Dec 9. 2) Hewitt PE, Llewelyn CA, Mackenzie J, Will RG. Creutzfeldt-Jakob disease and blood transfusion: results of the UK Transfusion Medicine Epidemiological Review study. Vox sanguinis. 2006;91(3):221-30.
Note: 
Add vCJD in the adverse occurrence taxonomy; add Blood/Type not specified to the MPHO taxonomy (Evi) - OK
Expert comments for publication: 
Report of the UK Transfusion Medicine Epidemiological Review. vCJD cases with donation history were tracked to identify recipients. Any recipients who later developed clinical vCJD were linked to the donor. vCJD cases with a transfusion history were traced back to identify donors of the transfused units of blood component. Any donor found to have developed clinical vCJD were linked to the transfusion recipient. Identified cases includes two probable clinical cases and one probably subclinical case (Peden, reported as separate case).