Down Syndrome associated to Moyamoya Syndrome: Case report

Detalhes bibliográficos
Autor(a) principal: Pacífico, Caroline Storack
Data de Publicação: 2022
Outros Autores: Vianna, Caroline Camargo, Santos Filho, Carlos Alberto dos, Franco, Rafael Marques
Tipo de documento: Artigo
Idioma: por
Título da fonte: Research, Society and Development
Texto Completo: https://rsdjournal.org/index.php/rsd/article/view/35923
Resumo: Moyamoya syndrome (MMS) is a rare cerebrovascular condition that primarily affects female people of Japanese origin. Moyamoya is a term of Japanese origin meaning "fog", due to the angiographic findings in which collateral vessels are formed with changes in flow. There is the possibility of bilateral and progressive stenosis, with consequent occlusion of the distal portion of the internal carotid artery and its branches, and thrombosis, transient repeated ischemia, and intraparenchymal hemorrhages are common findings. Because it is a rare disease, of an etiology not fully described, and because of its clinical repercussions, this case aims to study this pathology and its inclusion as a differential diagnosis of sudden neurological deficit, with a hypothesis of stroke in young patients, especially in carriers of Down Syndrome (DS). Thus, through early diagnosis and its consequent treatment, a better prognosis can be obtained, thus entailing a better quality of life for the patient and his family, and reducing the risk of recurrence.
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spelling Down Syndrome associated to Moyamoya Syndrome: Case reportSíndrome de Down asociado al Síndrome de Moyamoya: Relato de casoSíndrome de Down associada à Síndrome de Moyamoya: Relato de casoSíndrome de DownSíndrome de MoyamoyaEnfermedad cerebrovascularAccidente Cerebrovascular Isquémico.Down SyndromeMoyamoya SyndromeCerebrovascular DiseaseIschemic Stroke.Síndrome de DownSíndrome de MoyamoyaDoença cerebrovascularAcidente Vascular Cerebral Isquêmico.Moyamoya syndrome (MMS) is a rare cerebrovascular condition that primarily affects female people of Japanese origin. Moyamoya is a term of Japanese origin meaning "fog", due to the angiographic findings in which collateral vessels are formed with changes in flow. There is the possibility of bilateral and progressive stenosis, with consequent occlusion of the distal portion of the internal carotid artery and its branches, and thrombosis, transient repeated ischemia, and intraparenchymal hemorrhages are common findings. Because it is a rare disease, of an etiology not fully described, and because of its clinical repercussions, this case aims to study this pathology and its inclusion as a differential diagnosis of sudden neurological deficit, with a hypothesis of stroke in young patients, especially in carriers of Down Syndrome (DS). Thus, through early diagnosis and its consequent treatment, a better prognosis can be obtained, thus entailing a better quality of life for the patient and his family, and reducing the risk of recurrence.El Síndrome de Moyamoya (SMM) es una condición cerebrovascular rara, que afecta principalmente personas de origen japonés, sobre todo a las mujeres. Moyamoya es un término de origen japonés que significa “niebla”, debido a los hallazgos angiográficos en que se forman vasos colaterales con cambios de flujo. Existe la posibilidad de estenosis bilateral y progresiva, con consecuente oclusión de la porción distal de la arteria carótida interna y sus ramas, siendo común hallazgos de trombosis, isquemias transitorias de repetición y hemorragias intraparenquimatosas. Por tratarse de una enfermedad rara, de etiología no descrita totalmente y por sus repercusiones clínicas, este caso busca estudiar esta patología y su inclusión como diagnóstico diferencial de déficit neurológico repentino, con hipótesis de accidente cerebrovascular (ACV) en pacientes jóvenes, especialmente en portadores Síndrome de Down (SD). Con eso, a través del diagnóstico precoz y su consecuente tratamiento, se puede obtener un mejor pronóstico, acarreando así mejor calidad de vida del paciente y de sus familiares y reduciendo el riesgo de recurrencia.A Síndrome de Moyamoya (SMM) é uma condição cerebrovascular rara, que acomete principalmente pessoas de origem japonesa, no sexo feminino. Moyamoya é um termo de origem japonesa que significa “nevoeiro”, devido aos achados angiográficos em que são formados vasos colaterais com alterações do fluxo. Há a possibilidade de estenose bilateral e progressiva, com consequente oclusão da porção distal da artéria carótida interna e seus ramos, sendo comum achados de tromboses, isquemias transitórias de repetição e hemorragias intraparenquimatosas. Por se tratar de uma doença rara, de etiologia não descrita totalmente e por suas repercussões clínicas, este caso visa estudar esta patologia e sua inclusão como diagnóstico diferencial de déficit neurológico súbito, com hipótese de acidente vascular cerebral (AVC) em pacientes jovens, especialmente em portadores Síndrome de Down (SD). Com isso, através do diagnostico precoce e seu consequente tratamento, pode-se obter um melhor prognóstico, acarretando assim melhor qualidade de vida do paciente e de seus familiares e reduzindo o risco de recorrência.Research, Society and Development2022-10-15info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://rsdjournal.org/index.php/rsd/article/view/3592310.33448/rsd-v11i13.35923Research, Society and Development; Vol. 11 No. 13; e549111335923Research, Society and Development; Vol. 11 Núm. 13; e549111335923Research, Society and Development; v. 11 n. 13; e5491113359232525-3409reponame:Research, Society and Developmentinstname:Universidade Federal de Itajubá (UNIFEI)instacron:UNIFEIporhttps://rsdjournal.org/index.php/rsd/article/view/35923/29987Copyright (c) 2022 Caroline Storack Pacífico; Caroline Camargo Vianna; Carlos Alberto dos Santos Filho; Rafael Marques Francohttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessPacífico, Caroline Storack Vianna, Caroline Camargo Santos Filho, Carlos Alberto dosFranco, Rafael Marques 2022-10-17T13:43:46Zoai:ojs.pkp.sfu.ca:article/35923Revistahttps://rsdjournal.org/index.php/rsd/indexPUBhttps://rsdjournal.org/index.php/rsd/oairsd.articles@gmail.com2525-34092525-3409opendoar:2024-01-17T09:50:39.518590Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)false
dc.title.none.fl_str_mv Down Syndrome associated to Moyamoya Syndrome: Case report
Síndrome de Down asociado al Síndrome de Moyamoya: Relato de caso
Síndrome de Down associada à Síndrome de Moyamoya: Relato de caso
title Down Syndrome associated to Moyamoya Syndrome: Case report
spellingShingle Down Syndrome associated to Moyamoya Syndrome: Case report
Pacífico, Caroline Storack
Síndrome de Down
Síndrome de Moyamoya
Enfermedad cerebrovascular
Accidente Cerebrovascular Isquémico.
Down Syndrome
Moyamoya Syndrome
Cerebrovascular Disease
Ischemic Stroke.
Síndrome de Down
Síndrome de Moyamoya
Doença cerebrovascular
Acidente Vascular Cerebral Isquêmico.
title_short Down Syndrome associated to Moyamoya Syndrome: Case report
title_full Down Syndrome associated to Moyamoya Syndrome: Case report
title_fullStr Down Syndrome associated to Moyamoya Syndrome: Case report
title_full_unstemmed Down Syndrome associated to Moyamoya Syndrome: Case report
title_sort Down Syndrome associated to Moyamoya Syndrome: Case report
author Pacífico, Caroline Storack
author_facet Pacífico, Caroline Storack
Vianna, Caroline Camargo
Santos Filho, Carlos Alberto dos
Franco, Rafael Marques
author_role author
author2 Vianna, Caroline Camargo
Santos Filho, Carlos Alberto dos
Franco, Rafael Marques
author2_role author
author
author
dc.contributor.author.fl_str_mv Pacífico, Caroline Storack
Vianna, Caroline Camargo
Santos Filho, Carlos Alberto dos
Franco, Rafael Marques
dc.subject.por.fl_str_mv Síndrome de Down
Síndrome de Moyamoya
Enfermedad cerebrovascular
Accidente Cerebrovascular Isquémico.
Down Syndrome
Moyamoya Syndrome
Cerebrovascular Disease
Ischemic Stroke.
Síndrome de Down
Síndrome de Moyamoya
Doença cerebrovascular
Acidente Vascular Cerebral Isquêmico.
topic Síndrome de Down
Síndrome de Moyamoya
Enfermedad cerebrovascular
Accidente Cerebrovascular Isquémico.
Down Syndrome
Moyamoya Syndrome
Cerebrovascular Disease
Ischemic Stroke.
Síndrome de Down
Síndrome de Moyamoya
Doença cerebrovascular
Acidente Vascular Cerebral Isquêmico.
description Moyamoya syndrome (MMS) is a rare cerebrovascular condition that primarily affects female people of Japanese origin. Moyamoya is a term of Japanese origin meaning "fog", due to the angiographic findings in which collateral vessels are formed with changes in flow. There is the possibility of bilateral and progressive stenosis, with consequent occlusion of the distal portion of the internal carotid artery and its branches, and thrombosis, transient repeated ischemia, and intraparenchymal hemorrhages are common findings. Because it is a rare disease, of an etiology not fully described, and because of its clinical repercussions, this case aims to study this pathology and its inclusion as a differential diagnosis of sudden neurological deficit, with a hypothesis of stroke in young patients, especially in carriers of Down Syndrome (DS). Thus, through early diagnosis and its consequent treatment, a better prognosis can be obtained, thus entailing a better quality of life for the patient and his family, and reducing the risk of recurrence.
publishDate 2022
dc.date.none.fl_str_mv 2022-10-15
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/35923
10.33448/rsd-v11i13.35923
url https://rsdjournal.org/index.php/rsd/article/view/35923
identifier_str_mv 10.33448/rsd-v11i13.35923
dc.language.iso.fl_str_mv por
language por
dc.relation.none.fl_str_mv https://rsdjournal.org/index.php/rsd/article/view/35923/29987
dc.rights.driver.fl_str_mv https://creativecommons.org/licenses/by/4.0
info:eu-repo/semantics/openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/4.0
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Research, Society and Development
publisher.none.fl_str_mv Research, Society and Development
dc.source.none.fl_str_mv Research, Society and Development; Vol. 11 No. 13; e549111335923
Research, Society and Development; Vol. 11 Núm. 13; e549111335923
Research, Society and Development; v. 11 n. 13; e549111335923
2525-3409
reponame:Research, Society and Development
instname:Universidade Federal de Itajubá (UNIFEI)
instacron:UNIFEI
instname_str Universidade Federal de Itajubá (UNIFEI)
instacron_str UNIFEI
institution UNIFEI
reponame_str Research, Society and Development
collection Research, Society and Development
repository.name.fl_str_mv Research, Society and Development - Universidade Federal de Itajubá (UNIFEI)
repository.mail.fl_str_mv rsd.articles@gmail.com
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