Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease

Detalhes bibliográficos
Autor(a) principal: Oliveira, Renato
Data de Publicação: 2021
Outros Autores: Dias, Marta, Marques, Inês Brás
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117
Resumo: Creutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. Cerebrospinal fluid analysis showed increased protein count. The workup to investigate autoimmune, infectious and paraneoplastic causes was negative. Symptoms progressively worsened, with left hemiplegia, dysphagia, urinary incontinence, and, later, akinetic mutism. The follow-up brain magnetic resonance scan revealed hyperintensity of bilateral basal ganglia as well as cerebral cortical abnormalities on diffusion-weighted imaging. Electroencephalography showed periodic activity and tau protein levels in the cerebrospinal fluid were elevated. Genetic analysis showed mutation c-598G > A. The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.
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spelling Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare DiseaseDoença de Creutzfeldt-Jakob: Apresentação Atípica de uma Doença Muito RaraCreutzfeldt-Jakob Syndrome/diagnosisCreutzfeldt-Jakob Syndrome/geneticsMutation/geneticsPrions/geneticsMutação/genéticaPriões/genéticaSíndrome de Creutzfeldt-Jakob/diagnósticoSíndrome de Creutzfeldt-Jakob/genéticaCreutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. Cerebrospinal fluid analysis showed increased protein count. The workup to investigate autoimmune, infectious and paraneoplastic causes was negative. Symptoms progressively worsened, with left hemiplegia, dysphagia, urinary incontinence, and, later, akinetic mutism. The follow-up brain magnetic resonance scan revealed hyperintensity of bilateral basal ganglia as well as cerebral cortical abnormalities on diffusion-weighted imaging. Electroencephalography showed periodic activity and tau protein levels in the cerebrospinal fluid were elevated. Genetic analysis showed mutation c-598G > A. The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.A doença de Creutzfeldt-Jakob, manifesta-se habitualmente como demência rapidamente progressiva. Apresentamos um caso de um doente de 59 anos com quadro súbito de parésia facial central e disartria, seguindo-se mioclonias no hemicorpo esquerdo. A ressonância magnética crânio-encefálica inicial mostrava hipersinal T2 e difusão no caudado e putamen direitos e líquido cérebro-raquidiano com hiperproteinorraquia. A investigação para causas autoimunes, infecciosas e paraneoplásicas foi negativa. Verificou-se um agravamento progressivo nos meses seguintes para hemiplegia esquerda, disfagia, incontinência urinaria e posterior mutismo acinético. A ressonância magnética crânio-encefálica mostrou evolução para restrição à difusão dos gânglios da base bilateralmente e múltiplas áreas corticais; A eletroencefalografia mostrou atividade periódica e proteína Tau no líquido cérebro-raquidiano elevada. A análise genética revelou mutação c.598G > A. O falecimento ocorreu após quatro meses de doença. Reportamos um caso de doença de Creutzfeldt-Jakob familiar associada a mutação da proteína priónica, com apresentação clínica e radiológica atípicas, nomeadamente sinais focais com instalação súbita, ausência de defeito cognitivo significativo e alterações imagiológicas unilaterais. Na evolução, a clínica e imagem tornaram-se características, permitindo o diagnóstico.Ordem dos Médicos2021-08-31info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfimage/jpegapplication/pdfimage/gifimage/gifimage/gifimage/gifimage/gifimage/gifapplication/pdfapplication/vnd.openxmlformats-officedocument.wordprocessingml.documentapplication/pdfapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117oai:ojs.www.actamedicaportuguesa.com:article/13117Acta Médica Portuguesa; Vol. 34 No. 9 (2021): September; 619-623Acta Médica Portuguesa; Vol. 34 N.º 9 (2021): Setembro; 619-6231646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/6137https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12033https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12043https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12044https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12045https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12046https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12047https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12048https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12049https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12050https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12256https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12364https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12907Direitos de Autor (c) 2020 Acta Médica Portuguesainfo:eu-repo/semantics/openAccessOliveira, RenatoDias, MartaMarques, Inês Brás2022-12-20T11:06:47Zoai:ojs.www.actamedicaportuguesa.com:article/13117Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:20:16.521509Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
Doença de Creutzfeldt-Jakob: Apresentação Atípica de uma Doença Muito Rara
title Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
spellingShingle Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
Oliveira, Renato
Creutzfeldt-Jakob Syndrome/diagnosis
Creutzfeldt-Jakob Syndrome/genetics
Mutation/genetics
Prions/genetics
Mutação/genética
Priões/genética
Síndrome de Creutzfeldt-Jakob/diagnóstico
Síndrome de Creutzfeldt-Jakob/genética
title_short Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
title_full Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
title_fullStr Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
title_full_unstemmed Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
title_sort Creutzfeldt-Jakob Disease: Atypical Presentation of a Very Rare Disease
author Oliveira, Renato
author_facet Oliveira, Renato
Dias, Marta
Marques, Inês Brás
author_role author
author2 Dias, Marta
Marques, Inês Brás
author2_role author
author
dc.contributor.author.fl_str_mv Oliveira, Renato
Dias, Marta
Marques, Inês Brás
dc.subject.por.fl_str_mv Creutzfeldt-Jakob Syndrome/diagnosis
Creutzfeldt-Jakob Syndrome/genetics
Mutation/genetics
Prions/genetics
Mutação/genética
Priões/genética
Síndrome de Creutzfeldt-Jakob/diagnóstico
Síndrome de Creutzfeldt-Jakob/genética
topic Creutzfeldt-Jakob Syndrome/diagnosis
Creutzfeldt-Jakob Syndrome/genetics
Mutation/genetics
Prions/genetics
Mutação/genética
Priões/genética
Síndrome de Creutzfeldt-Jakob/diagnóstico
Síndrome de Creutzfeldt-Jakob/genética
description Creutzfeldt-Jakob disease typically presents as rapidly progressive dementia. We describe the case of a 59-year-old male patient presenting with sudden onset of central facial palsy and dysarthria, followed by myoclonus of his left upper and lower limbs. Initial brain magnetic resonance showed hyperintensity of the right caudate and putamen on diffusion-weighted imaging and T2 sequences. Cerebrospinal fluid analysis showed increased protein count. The workup to investigate autoimmune, infectious and paraneoplastic causes was negative. Symptoms progressively worsened, with left hemiplegia, dysphagia, urinary incontinence, and, later, akinetic mutism. The follow-up brain magnetic resonance scan revealed hyperintensity of bilateral basal ganglia as well as cerebral cortical abnormalities on diffusion-weighted imaging. Electroencephalography showed periodic activity and tau protein levels in the cerebrospinal fluid were elevated. Genetic analysis showed mutation c-598G > A. The patient died four months later. We report a case of familial Creutzfeldt-Jakob disease with atypical clinical and radiological features, namely neurological focal signs with sudden onset, absence of significant cognitive impairment and unilateral radiological findings. With disease progression, characteristic clinical and radiological features led to the diagnosis.
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12033
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12043
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12044
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https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12046
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12047
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12048
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12049
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12050
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12256
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12364
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/13117/12907
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dc.publisher.none.fl_str_mv Ordem dos Médicos
publisher.none.fl_str_mv Ordem dos Médicos
dc.source.none.fl_str_mv Acta Médica Portuguesa; Vol. 34 No. 9 (2021): September; 619-623
Acta Médica Portuguesa; Vol. 34 N.º 9 (2021): Setembro; 619-623
1646-0758
0870-399X
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