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A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation

Creutzfeldt–Jacob disease is a progressive and ultimately fatal disease, representing one of the most common forms of prion diseases. It is a rare pathology presenting with various symptomatology, and the fact that a definite diagnosis can be obtained solely by neuropathological techniques makes it...

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Autores principales: Kelemen, Krisztina, Kövecsi, Attila, Banias, Laura, Klára, Izolda, Mihály, István, Forró, Csilla, Szász, József Attila, Szatmári, Szabolcs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9409679/
https://www.ncbi.nlm.nih.gov/pubmed/36013055
http://dx.doi.org/10.3390/jcm11164803
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author Kelemen, Krisztina
Kövecsi, Attila
Banias, Laura
Klára, Izolda
Mihály, István
Forró, Csilla
Szász, József Attila
Szatmári, Szabolcs
author_facet Kelemen, Krisztina
Kövecsi, Attila
Banias, Laura
Klára, Izolda
Mihály, István
Forró, Csilla
Szász, József Attila
Szatmári, Szabolcs
author_sort Kelemen, Krisztina
collection PubMed
description Creutzfeldt–Jacob disease is a progressive and ultimately fatal disease, representing one of the most common forms of prion diseases. It is a rare pathology presenting with various symptomatology, and the fact that a definite diagnosis can be obtained solely by neuropathological techniques makes it hard to recognize and diagnose. Here we present the clinical and neuropathological features of a 72-year-old woman, who originally presented in a county hospital, then, along with the disease progression, got transferred to a university center in Romania, where CJD-specific tests are rarely performed, and ultimately was diagnosed with the help of international collaboration. The purpose of this case report and review is to summarize the Romanian CJD situation until the present day, to place the Romanian CJD epidemiology in an Eastern European context, and to highlight the diagnostic options and possibilities for clinical practitioners. We would also like to draw attention to the need for a national surveillance system. By presenting the patient’s route in Romania from the first presentation to diagnosis, we would like to emphasize the importance of interdisciplinary and international collaboration, by which we managed to cross the regional diagnostic boundaries and create a possible diagnostic pathway for future cases.
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spelling pubmed-94096792022-08-26 A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation Kelemen, Krisztina Kövecsi, Attila Banias, Laura Klára, Izolda Mihály, István Forró, Csilla Szász, József Attila Szatmári, Szabolcs J Clin Med Case Report Creutzfeldt–Jacob disease is a progressive and ultimately fatal disease, representing one of the most common forms of prion diseases. It is a rare pathology presenting with various symptomatology, and the fact that a definite diagnosis can be obtained solely by neuropathological techniques makes it hard to recognize and diagnose. Here we present the clinical and neuropathological features of a 72-year-old woman, who originally presented in a county hospital, then, along with the disease progression, got transferred to a university center in Romania, where CJD-specific tests are rarely performed, and ultimately was diagnosed with the help of international collaboration. The purpose of this case report and review is to summarize the Romanian CJD situation until the present day, to place the Romanian CJD epidemiology in an Eastern European context, and to highlight the diagnostic options and possibilities for clinical practitioners. We would also like to draw attention to the need for a national surveillance system. By presenting the patient’s route in Romania from the first presentation to diagnosis, we would like to emphasize the importance of interdisciplinary and international collaboration, by which we managed to cross the regional diagnostic boundaries and create a possible diagnostic pathway for future cases. MDPI 2022-08-17 /pmc/articles/PMC9409679/ /pubmed/36013055 http://dx.doi.org/10.3390/jcm11164803 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Kelemen, Krisztina
Kövecsi, Attila
Banias, Laura
Klára, Izolda
Mihály, István
Forró, Csilla
Szász, József Attila
Szatmári, Szabolcs
A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation
title A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation
title_full A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation
title_fullStr A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation
title_full_unstemmed A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation
title_short A Rare Case of Histopathologically Confirmed Creutzfeldt–Jakob Disease from Romania, Long Route to Diagnosis—Case Report and an Overview of the Romanian CJD Situation
title_sort rare case of histopathologically confirmed creutzfeldt–jakob disease from romania, long route to diagnosis—case report and an overview of the romanian cjd situation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9409679/
https://www.ncbi.nlm.nih.gov/pubmed/36013055
http://dx.doi.org/10.3390/jcm11164803
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