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Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism

The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient’s outcome is influenced by etiology and associated central nervous system malformations. We describe a child with Turner syndrome (TS) mosaicism, with...

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Autores principales: Pereira, Ester, Polo, Monica Rebollo, López, Jordi Muchart, Quijano, Thais Agut, García-Alix, Alfredo, Fons, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Publications, Pavia, Italy 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076649/
https://www.ncbi.nlm.nih.gov/pubmed/24987509
http://dx.doi.org/10.4081/pr.2014.5112
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author Pereira, Ester
Polo, Monica Rebollo
López, Jordi Muchart
Quijano, Thais Agut
García-Alix, Alfredo
Fons, Carmen
author_facet Pereira, Ester
Polo, Monica Rebollo
López, Jordi Muchart
Quijano, Thais Agut
García-Alix, Alfredo
Fons, Carmen
author_sort Pereira, Ester
collection PubMed
description The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient’s outcome is influenced by etiology and associated central nervous system malformations. We describe a child with Turner syndrome (TS) mosaicism, with particular phenotype features and a complete agenesis of the corpus callosum. To our knowledge, this is the second case report of TS mosaicism associated with complete agenesis of the corpus callosum. Anatomical brain magnetic resonance imaging and diffusion tensor imaging were useful to confirm the complete absence of the corpus callosum, evaluate associated central nervous system malformations, visualize abnormal white matter tracts (Probst bundles) and assess the remaining commissures.
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spelling pubmed-40766492014-07-01 Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism Pereira, Ester Polo, Monica Rebollo López, Jordi Muchart Quijano, Thais Agut García-Alix, Alfredo Fons, Carmen Pediatr Rep Case Report The agenesis of the corpus callosum results from a failure in the development of the largest fiber bundle that connects cerebral hemispheres. Patient’s outcome is influenced by etiology and associated central nervous system malformations. We describe a child with Turner syndrome (TS) mosaicism, with particular phenotype features and a complete agenesis of the corpus callosum. To our knowledge, this is the second case report of TS mosaicism associated with complete agenesis of the corpus callosum. Anatomical brain magnetic resonance imaging and diffusion tensor imaging were useful to confirm the complete absence of the corpus callosum, evaluate associated central nervous system malformations, visualize abnormal white matter tracts (Probst bundles) and assess the remaining commissures. PAGEPress Publications, Pavia, Italy 2014-05-06 /pmc/articles/PMC4076649/ /pubmed/24987509 http://dx.doi.org/10.4081/pr.2014.5112 Text en ©Copyright E. Pereira et al. http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Pereira, Ester
Polo, Monica Rebollo
López, Jordi Muchart
Quijano, Thais Agut
García-Alix, Alfredo
Fons, Carmen
Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
title Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
title_full Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
title_fullStr Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
title_full_unstemmed Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
title_short Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism
title_sort agenesis of the corpus callosum in a newborn with turner mosaicism
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076649/
https://www.ncbi.nlm.nih.gov/pubmed/24987509
http://dx.doi.org/10.4081/pr.2014.5112
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