Diagnostics of Sporadic Creutzfeldt-Jakob Disease – Literature Review

Ciepierski, Wojciech Maciej; Adamczyk-Sowa, Monika; Kronenberg, Tomasz Męcik; Wierzcbicki, Krzysztof

doi:10.36740/wlek201910127

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“…horoba Creutzfeldta-Jakoba (Creutzfeldt-Jakob disease, CJD) jest postępującą encefalopatią gąbczastą, którą wywołują nieprawidłowo pofałdowane białka zwane prionami, będące cząsteczkami zakaźnymi (Ciepierski et al, 2019;Kozubski i Liberski, 2019;Prusiner, 2009;Uttley et al, 2020). Po wtargnięciu do organizmu gospodarza priony mogą być stwierdzane we wszystkich narządach, ale największe stężenie osiągają w mózgu i w tylnej części gałki ocznej (w siatkówce i nerwie wzrokowym).…”

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Close patient observation and electroencephalography play an important role in the diagnosis of rare diseases. Presentation of a case of Creutzfeldt-Jakob disease

Wiszniewska¹,

Domagalska²

2021

Aktualn Neurol

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Creutzfeldt–Jakob disease is a rare, progressive spongiform encephalopathy caused by infectious proteins called prions. It is characterised by rapidly progressive dementia accompanied by cerebellar, visual, extrapyramidal, and pyramidal symptoms, as well as myoclonus and mutism in later stage of the disease. The most common type is sporadic Creutzfeldt– Jakob disease, accounting for 85% of all cases. Treatment of the disease is symptomatic. An important role in making the diagnosis is attributed to the observation of the patient and electroencephalography, showing characteristic cyclical discharges. We present the case of a patient whose first symptoms were psychiatric in nature, and who was diagnosed with Creutzfeldt–Jakob disease based on careful observation, presence of myoclonus, and repeated electroencephalography examinations in which typical 1–2 seconds of sharp and slow wave discharges appeared. By presenting this case of severe progressive encephalopathy, we would like to highlight the fact that even in the age of modern diagnostic methods, electroencephalography, which has been in use for many years, may be crucial in the diagnostic process. We would also like to point out that the initial symptoms of Creutzfeldt–Jakob disease may suggest a psychiatric disorder.

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“…Wszystkie osoby, u których rozpoznano sCJD, zmarły (Parchi et al, 2012). Nie opracowano dotąd leczenia przyczynowego (Ciepierski et al, 2019), a leczenie objawowe ma zapewnić choremu jak największy komfort. Bliskim pacjenta należy wytłumaczyć istotę choroby, trzeba też przygotować ich na niepomyślny przebieg (Appleby i Yobs, 2018;Parchi et al, 2012).…”

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Close patient observation and electroencephalography play an important role in the diagnosis of rare diseases. Presentation of a case of Creutzfeldt-Jakob disease

Wiszniewska¹,

Domagalska²

2021

Aktualn Neurol

View full text Add to dashboard Cite

show abstract

Diagnostics of Sporadic Creutzfeldt-Jakob Disease – Literature Review

Cited by 1 publication

References 0 publications

Close patient observation and electroencephalography play an important role in the diagnosis of rare diseases. Presentation of a case of Creutzfeldt-Jakob disease

Close patient observation and electroencephalography play an important role in the diagnosis of rare diseases. Presentation of a case of Creutzfeldt-Jakob disease

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