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Periventricular Hyperintensities Mimicking Multiple Sclerosis

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small-to-medium-sized vessel disease that causes degeneration of vascular smooth muscles. The most frequently found mutation is NOTCH3 on chromosome 19, the presence of which confirms the diagno...

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Autores principales: Saleem, Sidra, Anwar, Arsalan, Abbasi, Zainab, Anjum, Zauraiz, Tariq, Zemal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777934/
https://www.ncbi.nlm.nih.gov/pubmed/31598433
http://dx.doi.org/10.7759/cureus.5326
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author Saleem, Sidra
Anwar, Arsalan
Abbasi, Zainab
Anjum, Zauraiz
Tariq, Zemal
author_facet Saleem, Sidra
Anwar, Arsalan
Abbasi, Zainab
Anjum, Zauraiz
Tariq, Zemal
author_sort Saleem, Sidra
collection PubMed
description Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small-to-medium-sized vessel disease that causes degeneration of vascular smooth muscles. The most frequently found mutation is NOTCH3 on chromosome 19, the presence of which confirms the diagnosis of CADASIL. The core features of CADASIL are migraine, ischemic events, cognitive decline, and psychiatric features. Its symptoms overlap with other diseases, most commonly with multiple sclerosis (MS). Both diseases can give fluid-attenuated inversion recovery in periventricular regions and deep white matter. CADASIL is often misdiagnosed and treated as MS due to these similarities. We present a case of a 28-year-old woman who began treatment for MS and was later confirmed with a diagnosis of CADASIL with a NOTCH3 mutation.
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spelling pubmed-67779342019-10-09 Periventricular Hyperintensities Mimicking Multiple Sclerosis Saleem, Sidra Anwar, Arsalan Abbasi, Zainab Anjum, Zauraiz Tariq, Zemal Cureus Genetics Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small-to-medium-sized vessel disease that causes degeneration of vascular smooth muscles. The most frequently found mutation is NOTCH3 on chromosome 19, the presence of which confirms the diagnosis of CADASIL. The core features of CADASIL are migraine, ischemic events, cognitive decline, and psychiatric features. Its symptoms overlap with other diseases, most commonly with multiple sclerosis (MS). Both diseases can give fluid-attenuated inversion recovery in periventricular regions and deep white matter. CADASIL is often misdiagnosed and treated as MS due to these similarities. We present a case of a 28-year-old woman who began treatment for MS and was later confirmed with a diagnosis of CADASIL with a NOTCH3 mutation. Cureus 2019-08-05 /pmc/articles/PMC6777934/ /pubmed/31598433 http://dx.doi.org/10.7759/cureus.5326 Text en Copyright © 2019, Saleem et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Saleem, Sidra
Anwar, Arsalan
Abbasi, Zainab
Anjum, Zauraiz
Tariq, Zemal
Periventricular Hyperintensities Mimicking Multiple Sclerosis
title Periventricular Hyperintensities Mimicking Multiple Sclerosis
title_full Periventricular Hyperintensities Mimicking Multiple Sclerosis
title_fullStr Periventricular Hyperintensities Mimicking Multiple Sclerosis
title_full_unstemmed Periventricular Hyperintensities Mimicking Multiple Sclerosis
title_short Periventricular Hyperintensities Mimicking Multiple Sclerosis
title_sort periventricular hyperintensities mimicking multiple sclerosis
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6777934/
https://www.ncbi.nlm.nih.gov/pubmed/31598433
http://dx.doi.org/10.7759/cureus.5326
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