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Cadasil syndrome: A case report with a literature review
“CADASIL” is a genetic microangiopathy with autosomal dominant inheritance. Its epidemiology and physiopathogenesis are poorly specified, but it is proven that this disease is due to a mutation of the NOTCH3 gene resulting in a loss of elasticity of the media of the affected vessels. The clinical ex...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8450197/ https://www.ncbi.nlm.nih.gov/pubmed/34584593 http://dx.doi.org/10.1016/j.radcr.2021.08.023 |
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author | Lahkim, Mohamed Laamrani, Fatima Zahare Andour, Hajar Gharbaoui, Yasmine Sanhaji, Latifa El-Fenni, Jamal En-Nouali, Hassane |
author_facet | Lahkim, Mohamed Laamrani, Fatima Zahare Andour, Hajar Gharbaoui, Yasmine Sanhaji, Latifa El-Fenni, Jamal En-Nouali, Hassane |
author_sort | Lahkim, Mohamed |
collection | PubMed |
description | “CADASIL” is a genetic microangiopathy with autosomal dominant inheritance. Its epidemiology and physiopathogenesis are poorly specified, but it is proven that this disease is due to a mutation of the NOTCH3 gene resulting in a loss of elasticity of the media of the affected vessels. The clinical expression is variable, dominated by migraine attacks with aura, ischemic vascular accidents and psychiatric disorders, in particular depression. MRI is essential for diagnosis even in the pre-symptomatic phase. It shows signal abnormalities in the basal ganglia and white matter, characteristic especially when located in the anterior part of the temporal lobes. The management of CADASIL is multidisciplinary, psychological for the most part without specificity of a particular treatment. |
format | Online Article Text |
id | pubmed-8450197 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-84501972021-09-27 Cadasil syndrome: A case report with a literature review Lahkim, Mohamed Laamrani, Fatima Zahare Andour, Hajar Gharbaoui, Yasmine Sanhaji, Latifa El-Fenni, Jamal En-Nouali, Hassane Radiol Case Rep Case Report “CADASIL” is a genetic microangiopathy with autosomal dominant inheritance. Its epidemiology and physiopathogenesis are poorly specified, but it is proven that this disease is due to a mutation of the NOTCH3 gene resulting in a loss of elasticity of the media of the affected vessels. The clinical expression is variable, dominated by migraine attacks with aura, ischemic vascular accidents and psychiatric disorders, in particular depression. MRI is essential for diagnosis even in the pre-symptomatic phase. It shows signal abnormalities in the basal ganglia and white matter, characteristic especially when located in the anterior part of the temporal lobes. The management of CADASIL is multidisciplinary, psychological for the most part without specificity of a particular treatment. Elsevier 2021-09-13 /pmc/articles/PMC8450197/ /pubmed/34584593 http://dx.doi.org/10.1016/j.radcr.2021.08.023 Text en © 2021 The Authors. Published by Elsevier Inc. on behalf of University of Washington. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Lahkim, Mohamed Laamrani, Fatima Zahare Andour, Hajar Gharbaoui, Yasmine Sanhaji, Latifa El-Fenni, Jamal En-Nouali, Hassane Cadasil syndrome: A case report with a literature review |
title | Cadasil syndrome: A case report with a literature review |
title_full | Cadasil syndrome: A case report with a literature review |
title_fullStr | Cadasil syndrome: A case report with a literature review |
title_full_unstemmed | Cadasil syndrome: A case report with a literature review |
title_short | Cadasil syndrome: A case report with a literature review |
title_sort | cadasil syndrome: a case report with a literature review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8450197/ https://www.ncbi.nlm.nih.gov/pubmed/34584593 http://dx.doi.org/10.1016/j.radcr.2021.08.023 |
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