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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...

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Autores principales: Lahkim, Mohamed, Laamrani, Fatima Zahare, Andour, Hajar, Gharbaoui, Yasmine, Sanhaji, Latifa, El-Fenni, Jamal, En-Nouali, Hassane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
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.
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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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