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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
PAGEPress Publications, Pavia, Italy
2014
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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. |
format | Online Article Text |
id | pubmed-4076649 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | PAGEPress Publications, Pavia, Italy |
record_format | MEDLINE/PubMed |
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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