Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation

We report here the first case of prenatally diagnosed Vici syndrome with delayed gyration associated with ACC. Trio based exome sequencing allowed the identification of a compound heterozygous mutation in the EPG5 gene. Our patient subsequently demonstrated severe developmental delay, hypopigmentation, progressive microcephaly, and failure to thrive which led to suspicion of the diagnosis. Her MRI demonstrated ACC with frontoparietal polymicrogyria, severe hypomyelination, and pontocerebellar atrophy. This prenatal presentation of malformations of cortical development in combination with ACC expands the EPG5‐related phenotypic spectrum. Our report supports the idea that EPG5‐related Vici syndrome is both a neurodevelopmental and neurodegenerative disorder. © 2016 Wiley Periodicals, Inc.

Source: American Journal of Medical Genetics Part A - February 6, 2017 Category: Genetics & Stem Cells Authors: Camille Maillard, Mara Cavallin, Kevin Piquand, Marion Philbert, Jean Philippe Bault, Anne Elodie Millischer, Despina Moshous, Marl ène Rio, Cyril Gitiaux, Nathalie Boddaert, Cecile Masson, Sophie Thomas, Nadia Bahi‐Buisson Tags: Clinical Report Source Type: research