title: Clinical presentation and pre-mortem diagnosis of variant Creutzfeldt-Jakob disease associated with blood transfusion: a case report.
abstract: BACKGROUND
  Concerns have been raised that variant Creutzfeldt-Jakob disease (vCJD) might be transmissible by blood transfusion. Two cases of prion infection in a group of known recipients of transfusion from donors who subsequently developed vCJD were identified post-mortem and reported in 2004. Another patient from this at-risk group developed neurological signs and was referred to the National Prion Clinic.
  
  
  METHODS
  The patient was admitted for investigation and details of blood transfusion history were obtained from the National Blood Service and Health Protection Agency; after diagnosis of vCJD, the patient was enrolled into the MRC PRION-1 trial. When the patient died, brain and tonsil tissue were obtained at autopsy and assessed for the presence of disease-related PrP by immunoblotting and immunohistochemistry.
  
  
  RESULTS
  A clinical diagnosis of probable vCJD was made; tonsil biopsy was not done. The patient received experimental therapy with quinacrine, but deteriorated and died after a clinical course typical of vCJD. Autopsy confirmed the diagnosis and showed prion infection of the tonsils.
  
  
  CONCLUSIONS
  This case of transfusion-associated vCJD infection, identified ante-mortem, is the third instance from a group of 23 known recipients who survived at least 5 years after receiving a transfusion from donors who subsequently developed vCJD. The risk to the remaining recipients of such transfusions is probably high, and these patients should be offered specialist follow-up and investigation. Tonsil biopsy will allow early and pre-symptomatic diagnosis in other iatrogenically exposed individuals at high risk, as in those with primary infection with bovine spongiform encephalopathy prions.
authors.affiliation: National Prion Clinic, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
authors.forename: Stephen J
authors.initials: SJ
authors.lastname: Wroe
authors.forename: Suvankar
authors.initials: S
authors.lastname: Pal
authors.forename: Durrenajaf
authors.initials: D
authors.lastname: Siddique
authors.forename: Harpreet
authors.initials: H
authors.lastname: Hyare
authors.forename: Rebecca
authors.initials: R
authors.lastname: Macfarlane
authors.forename: Susan
authors.initials: S
authors.lastname: Joiner
authors.forename: Jacqueline M
authors.initials: JM
authors.lastname: Linehan
authors.forename: Sebastian
authors.initials: S
authors.lastname: Brandner
authors.forename: Jonathan D F
authors.initials: JD
authors.lastname: Wadsworth
authors.forename: Patricia
authors.initials: P
authors.lastname: Hewitt
authors.forename: John
authors.initials: J
authors.lastname: Collinge
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology*; D007562:Creutzfeldt-Jakob Syndrome / Q000175:diagnosis / Q000503:physiopathology* / Q000635:transmission; D017809:Fatal Outcome; D006801:Humans; D008297:Male; D008875:Middle Aged; D014066:Palatine Tonsil / Q000473:pathology*; D000072002:Prion Proteins; D011328:Prions / Q000235:genetics; D065227:Transfusion Reaction
chemical_list: C512656:PRNP protein, human; D000072002:Prion Proteins; D011328:Prions