Imaging in Myotonic Dystrophy Type 1 – Case Reports

Myotonic dystrophy type 1 (DM1) is the most common of the muscular dystrophies. It is an autosomal dominant neuromuscular disorder with multisystem involvement, including the central nervous system. Two DNA-proven cases are presented. Patients reported are siblings showing features of DM1 on magneti...

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Autores principales: Bielen, Jurgen, Schepers, Steven, Termote, Bruno, Vanwyck, Rik, Souverijns, Geert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Ubiquity Press 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6100612/
https://www.ncbi.nlm.nih.gov/pubmed/30151479
http://dx.doi.org/10.5334/jbr-btr.994
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author Bielen, Jurgen
Schepers, Steven
Termote, Bruno
Vanwyck, Rik
Souverijns, Geert
author_facet Bielen, Jurgen
Schepers, Steven
Termote, Bruno
Vanwyck, Rik
Souverijns, Geert
author_sort Bielen, Jurgen
collection PubMed
description Myotonic dystrophy type 1 (DM1) is the most common of the muscular dystrophies. It is an autosomal dominant neuromuscular disorder with multisystem involvement, including the central nervous system. Two DNA-proven cases are presented. Patients reported are siblings showing features of DM1 on magnetic resonance imaging (MRI). These features include T2 and FLAIR hyperintensities in the periventricular, deep, and subcortical white matter, with frequent involvement of the anterior temporal lobe. Other features include general brain atrophy and enlarged Virchow-Robin spaces. Subcortical white matter lesions anterior in the temporal lobe are the most specific imaging finding, and a short differential diagnosis is discussed.
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spelling pubmed-61006122018-08-27 Imaging in Myotonic Dystrophy Type 1 – Case Reports Bielen, Jurgen Schepers, Steven Termote, Bruno Vanwyck, Rik Souverijns, Geert J Belg Soc Radiol Case Report Myotonic dystrophy type 1 (DM1) is the most common of the muscular dystrophies. It is an autosomal dominant neuromuscular disorder with multisystem involvement, including the central nervous system. Two DNA-proven cases are presented. Patients reported are siblings showing features of DM1 on magnetic resonance imaging (MRI). These features include T2 and FLAIR hyperintensities in the periventricular, deep, and subcortical white matter, with frequent involvement of the anterior temporal lobe. Other features include general brain atrophy and enlarged Virchow-Robin spaces. Subcortical white matter lesions anterior in the temporal lobe are the most specific imaging finding, and a short differential diagnosis is discussed. Ubiquity Press 2016-10-10 /pmc/articles/PMC6100612/ /pubmed/30151479 http://dx.doi.org/10.5334/jbr-btr.994 Text en Copyright: © 2016 The Author(s) http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution 4.0 International License (CC-BY 4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. See http://creativecommons.org/licenses/by/4.0/.
spellingShingle Case Report
Bielen, Jurgen
Schepers, Steven
Termote, Bruno
Vanwyck, Rik
Souverijns, Geert
Imaging in Myotonic Dystrophy Type 1 – Case Reports
title Imaging in Myotonic Dystrophy Type 1 – Case Reports
title_full Imaging in Myotonic Dystrophy Type 1 – Case Reports
title_fullStr Imaging in Myotonic Dystrophy Type 1 – Case Reports
title_full_unstemmed Imaging in Myotonic Dystrophy Type 1 – Case Reports
title_short Imaging in Myotonic Dystrophy Type 1 – Case Reports
title_sort imaging in myotonic dystrophy type 1 – case reports
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6100612/
https://www.ncbi.nlm.nih.gov/pubmed/30151479
http://dx.doi.org/10.5334/jbr-btr.994
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AT souverijnsgeert imaginginmyotonicdystrophytype1casereports

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