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Revista Med
versão impressa ISSN 0121-5256versão On-line ISSN 1909-7700
Resumo
MANTILLA FLOREZ, Yesid Fabián et al. Creutzfeldt-Jakob Disease. Case Report and Literature Review. Rev. Med [online]. 2019, vol.27, n.2, pp.103-111. Epub 26-Nov-2022. ISSN 0121-5256. https://doi.org/10.18359/rmed.3759.
Creutzfeldt-Jakob disease (CJD) is a transmissible neurodegenerative pathology produced by an infecting abnormal protein called prion. Together with kuru, fatal familial insomnia, and Gerstmann-Stráussler-Scheinker syndrome, it forms the group of so-called spongiform encephalopathies. CJD is the most common form in humans: it is estimated to affect one person per million worldwide and most patients have classic symptoms of dementia and myoclonus, associated with specific changes in the electroencephalogram (EEG). As the disease progresses, the dementia condition worsens and visual, cerebellar, pyramidal, and extrapyramidal symptoms may develop. The final diagnosis is achieved by proving the spongiform degeneration of neurons in the histopathology. CJD is always fatal and has no specific treatment: about 90 % of patients die within the first year of diagnosis. This article reports the case of a patient with probable sporadic CJD, following current who diagnostic criteria, and provides a literature review.
Palavras-chave : Prion; Creutzfeldt-Jakob; spongiform encephalopathy; dementia; myoclonus.