Author:
Pereira Ester,Polo Monica Rebollo,López Jordi Muchart,Quijano Thais Agut,García-Alix Alfredo,Fons Carmen
Abstract
The agenesis of the <em>corpus callosum</em> 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 <em>corpus callosum.</em> To our knowledge, this is the second case report of TS mosaicism associated with complete agenesis of the <em>corpus callosum</em>. Anatomical brain magnetic resonance imaging and diffusion tensor imaging were useful to confirm the complete absence of the <em>corpus</em> <em>callosum</em>, evaluate associated central nervous system malformations, visualize abnormal white matter tracts (Probst bundles) and assess the remaining commissures.
Cited by
3 articles.
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