PROBABLE CREUTZFELDT JAKOB DISEASE: CASE REPORT

Prion diseases are associated with the accumulation of an abnormal isoformof cellular prion protein (PrP Sc ), which is the principal constituent of prions. Pr ions replicate in lymphoreticular tissues before neuroinvasion, suggesting that lymphoreticular biop sy samples may allow early diagnosis by detection of PrP Sc . Creutzfeldt-Jakob Disease (CJD) is the most frequ ent prion disease in humans. Clinical diagnosis of sporadic (CJD) is based on the evaluat ion of rapidly progressive dementia, ataxia, myoclonus, changes on the electroencephalogram and other neurological signs. We report a problable (CJD) case in Santa Barbara surgical center, Rio de Janeiro, Brazil. From our clinical case, we decide d to do a brief review about (CJD) researching at Med line and Pubmed, using terms Creutzfeldt-Jakob disease and Prion diseases. A definite diagnosis, h owever, is confined to cases that have been evaluated neuropathlogically or by equivalent diagn ostic techniques. The range in clinical expression of the disease is better appreciated and the existe nce of “atypical” cases of CJD is increasingly recognized. The clinical characteristics, laborator y findings, differential diagnosis, mechanisms of transmission and the actual therapeutic approach ar e discussed.