Premium
Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation
Author(s) -
Maillard Camille,
Cavallin Mara,
Piquand Kevin,
Philbert Marion,
Bault Jean Philippe,
Millischer Anne Elodie,
Moshous Despina,
Rio Marlène,
Gitiaux Cyril,
Boddaert Nathalie,
Masson Cecile,
Thomas Sophie,
BahiBuisson Nadia
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38061
Subject(s) - polymicrogyria , hypopigmentation , failure to thrive , microcephaly , corpus callosum , agenesis of the corpus callosum , medicine , global developmental delay , exome sequencing , microphthalmia , pathology , pediatrics , mutation , phenotype , genetics , epilepsy , biology , dermatology , psychiatry , gene
EPG5 ‐related Vici syndrome is a rare multisystem autosomal recessive disorder characterized by corpus callosum agenesis (ACC), hypopigmentation, cataracts, acquired microcephaly, failure to thrive, cardiomyopathy and profound developmental delay, and immunodeficiency. 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. © 2017 Wiley Periodicals, Inc.