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Pediatric Reports
Volume 6
Issue 2
10.4081/pr.2014.5112
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Case Report

Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism

by
Ester Pereira
1,2,*,
Monica Rebollo Polo
3,
Jordi Muchart López
3,
Thais Agut Quijano
4,
Alfredo García-Alix
4 and
Carmen Fons
2
1
Department of Pediatrics, Centro Hospitalar de Leiria-Pombal EPE, Leiria, Portugal
2
Department of Neurology
3
Department of Neuroradiology
4
Department of Neonatology, Hospital Sant Joan De Déu, Barcelona, Spain
*
Author to whom correspondence should be addressed.
Pediatr. Rep. 2014, 6(2), 5112; https://doi.org/10.4081/pr.2014.5112
Submission received: 7 October 2013 / Revised: 7 October 2013 / Accepted: 12 December 2013 / Published: 6 May 2014

Abstract

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.
Keywords: central nervous system malformations; corpus callosum; Turner syndrome central nervous system malformations; corpus callosum; Turner syndrome

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MDPI and ACS Style

Pereira, E.; Polo, M.R.; López, J.M.; Quijano, T.A.; García-Alix, A.; Fons, C. Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism. Pediatr. Rep. 2014, 6, 5112. https://doi.org/10.4081/pr.2014.5112

AMA Style

Pereira E, Polo MR, López JM, Quijano TA, García-Alix A, Fons C. Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism. Pediatric Reports. 2014; 6(2):5112. https://doi.org/10.4081/pr.2014.5112

Chicago/Turabian Style

Pereira, Ester, Monica Rebollo Polo, Jordi Muchart López, Thais Agut Quijano, Alfredo García-Alix, and Carmen Fons. 2014. "Agenesis of the Corpus Callosum in a Newborn with Turner Mosaicism" Pediatric Reports 6, no. 2: 5112. https://doi.org/10.4081/pr.2014.5112

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