title: Agenesis of the corpus callosum in a newborn with turner mosaicism.
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.
authors.affiliation: Department of Pediatrics, Centro Hospitalar de Leiria-Pombal EPE , Leiria, Portugal ; Department of Neurology, Hospital Sant Joan De Déu , Barcelona, Spain.
authors.forename: Ester
authors.initials: E
authors.lastname: Pereira
authors.affiliation: Department of Neuroradiology, Hospital Sant Joan De Déu , Barcelona, Spain.
authors.forename: Monica Rebollo
authors.initials: MR
authors.lastname: Polo
authors.affiliation: Department of Neuroradiology, Hospital Sant Joan De Déu , Barcelona, Spain.
authors.forename: Jordi Muchart
authors.initials: JM
authors.lastname: López
authors.affiliation: Department of Neonatology, Hospital Sant Joan De Déu , Barcelona, Spain.
authors.forename: Thais Agut
authors.initials: TA
authors.lastname: Quijano
authors.affiliation: Department of Neonatology, Hospital Sant Joan De Déu , Barcelona, Spain.
authors.forename: Alfredo
authors.initials: A
authors.lastname: García-Alix
authors.affiliation: Department of Neurology, Hospital Sant Joan De Déu , Barcelona, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Fons
keywords: Turner syndrome; central nervous system malformations; corpus callosum