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When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman

Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive etiology of cerebral small-vessel disease. The bulk of CARASIL cases reported in the literature was from Japan and China. Herein, we report the first genetically confir...

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Autores principales: Al Nidawi, Firas, Wael, Mohamed, Alkhater, Noora, Asil, Talip, Fida, Mariam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319243/
https://www.ncbi.nlm.nih.gov/pubmed/36455066
http://dx.doi.org/10.1097/NRL.0000000000000476
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author Al Nidawi, Firas
Wael, Mohamed
Alkhater, Noora
Asil, Talip
Fida, Mariam
author_facet Al Nidawi, Firas
Wael, Mohamed
Alkhater, Noora
Asil, Talip
Fida, Mariam
author_sort Al Nidawi, Firas
collection PubMed
description Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive etiology of cerebral small-vessel disease. The bulk of CARASIL cases reported in the literature was from Japan and China. Herein, we report the first genetically confirmed case of CARASIL in the Arabic population. CASE PRESENTATION: We present the case of a 35-year-old Bahraini woman diagnosed with an acute ischemic stroke after experiencing right-sided weakness and slurred speech. She had complained of persistent headaches, decreased memory, hair loss, joint pain, and personality changes. CARASIL was suspected on her medical history and brain imaging results, and genetic testing confirmed the diagnosis. CONCLUSION: This case contributes to our understanding of CARASIL, which is an extremely rare disease. It adds to the growing data on disease reporting outside China and Japan. We also report the first case of CARASIL in an Arabic patient and describe magnetic resonance spectroscopy finding partially different from what has been reported before.
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spelling pubmed-103192432023-07-05 When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman Al Nidawi, Firas Wael, Mohamed Alkhater, Noora Asil, Talip Fida, Mariam Neurologist Case Report/Case Series Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare autosomal recessive etiology of cerebral small-vessel disease. The bulk of CARASIL cases reported in the literature was from Japan and China. Herein, we report the first genetically confirmed case of CARASIL in the Arabic population. CASE PRESENTATION: We present the case of a 35-year-old Bahraini woman diagnosed with an acute ischemic stroke after experiencing right-sided weakness and slurred speech. She had complained of persistent headaches, decreased memory, hair loss, joint pain, and personality changes. CARASIL was suspected on her medical history and brain imaging results, and genetic testing confirmed the diagnosis. CONCLUSION: This case contributes to our understanding of CARASIL, which is an extremely rare disease. It adds to the growing data on disease reporting outside China and Japan. We also report the first case of CARASIL in an Arabic patient and describe magnetic resonance spectroscopy finding partially different from what has been reported before. Lippincott Williams & Wilkins 2022-12-01 /pmc/articles/PMC10319243/ /pubmed/36455066 http://dx.doi.org/10.1097/NRL.0000000000000476 Text en Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution-Non Commercial-No Derivatives License 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) (CCBY-NC-ND), where it is permissible to download and share the work provided it is properly cited. The work cannot be changed in any way or used commercially without permission from the journal. http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/)
spellingShingle Case Report/Case Series
Al Nidawi, Firas
Wael, Mohamed
Alkhater, Noora
Asil, Talip
Fida, Mariam
When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
title When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
title_full When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
title_fullStr When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
title_full_unstemmed When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
title_short When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
title_sort when recurrent strokes, back pain, and alopecia constitute a hereditary cause of small-vessel disease, carasil in an arabic woman
topic Case Report/Case Series
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319243/
https://www.ncbi.nlm.nih.gov/pubmed/36455066
http://dx.doi.org/10.1097/NRL.0000000000000476
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