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Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases

Human prion diseases are a group of rare and fatal diseases without a cure. Symptoms include rapidly progressive dementia, ataxia, myoclonus, akinetic mutism, and visual disturbances. A broad differential is required to consider prion disease as a diagnosis and rule out other conditions. Historicall...

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Detalles Bibliográficos
Autores principales: Desai, Nisha, Purzycki, Taylor
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10292074/
https://www.ncbi.nlm.nih.gov/pubmed/37378214
http://dx.doi.org/10.7759/cureus.39412
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author Desai, Nisha
Purzycki, Taylor
author_facet Desai, Nisha
Purzycki, Taylor
author_sort Desai, Nisha
collection PubMed
description Human prion diseases are a group of rare and fatal diseases without a cure. Symptoms include rapidly progressive dementia, ataxia, myoclonus, akinetic mutism, and visual disturbances. A broad differential is required to consider prion disease as a diagnosis and rule out other conditions. Historically, to confirm the diagnosis of prion disease, a brain biopsy was needed. Over the past few decades, brain MRI, video electroencephalogram, lumbar puncture results, and a thorough clinical assessment have helped arrive at a probable diagnosis. We present the case of a 60-year-old female with a rapidly worsening altered mental status who received an early diagnosis of prion disease with the help of imaging and lab results. This case shows that a timely diagnosis of prion disease is important to allow the patient and their families to prepare for the inevitable fatality of the disease and discuss the goals of care.
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spelling pubmed-102920742023-06-27 Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases Desai, Nisha Purzycki, Taylor Cureus Internal Medicine Human prion diseases are a group of rare and fatal diseases without a cure. Symptoms include rapidly progressive dementia, ataxia, myoclonus, akinetic mutism, and visual disturbances. A broad differential is required to consider prion disease as a diagnosis and rule out other conditions. Historically, to confirm the diagnosis of prion disease, a brain biopsy was needed. Over the past few decades, brain MRI, video electroencephalogram, lumbar puncture results, and a thorough clinical assessment have helped arrive at a probable diagnosis. We present the case of a 60-year-old female with a rapidly worsening altered mental status who received an early diagnosis of prion disease with the help of imaging and lab results. This case shows that a timely diagnosis of prion disease is important to allow the patient and their families to prepare for the inevitable fatality of the disease and discuss the goals of care. Cureus 2023-05-23 /pmc/articles/PMC10292074/ /pubmed/37378214 http://dx.doi.org/10.7759/cureus.39412 Text en Copyright © 2023, Desai et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Desai, Nisha
Purzycki, Taylor
Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases
title Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases
title_full Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases
title_fullStr Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases
title_full_unstemmed Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases
title_short Early Diagnostic Measures to Confirm the Diagnosis of Human Prion Diseases
title_sort early diagnostic measures to confirm the diagnosis of human prion diseases
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10292074/
https://www.ncbi.nlm.nih.gov/pubmed/37378214
http://dx.doi.org/10.7759/cureus.39412
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