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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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Detalles Bibliográficos
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
Descripción
Sumario: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.