Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.
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.
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
Camille
C
Maillard
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
Mara
M
Cavallin
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
Kevin
K
Piquand
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
Marion
M
Philbert
CHU Bicêtre Departments of Obstetrics, Bicetre University Hospital, APHP, Paris, France.|CPDP, CHI Poissy Saint-Germain, Paris, France.
Jean Philippe
JP
Bault
Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.
Anne Elodie
AE
Millischer
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.|INSERM UMR1163, Genome Dynamics in the Immune System, Paris, France.|Paediatric Immunology, Hematology and Rheumatology Unit, Necker Enfants Malades University Hospital, APHP, Paris, France.
Despina
D
Moshous
Departments of Genetics, Necker Enfants Malades University Hospital, APHP, Paris, France.
Marlène
M
Rio
Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, Paris, France.
Cyril
C
Gitiaux
Department of Pediatric Radiology, Hôpital Necker Enfants Malades, AP-HP, University René Descartes, PRES Sorbonne Paris Cité, Paris, France.|INSERM U1000 and UMR 1163, Institut Imagine, Paris, France.
Nathalie
N
Boddaert
Plateforme Bioinformatique, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Cecile
C
Masson
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.
Sophie
S
Thomas
Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.|INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France.|Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, Paris, France.
Nadia
N
Bahi-Buisson
D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics*; D000071183:Autophagy-Related Proteins; D059472:Exome; D005260:Female; D056726:Genetic Association Studies; D005820:Genetic Testing; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D051907:Lysosomal Membrane Proteins; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D065706:Polymicrogyria / Q000175:diagnosis* / Q000235:genetics*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011506:Proteins / Q000235:genetics*; D014463:Ultrasonography; D033921:Vesicular Transport Proteins
D000071183:Autophagy-Related Proteins; C000592185:EPG5 protein, human; D051907:Lysosomal Membrane Proteins; D011506:Proteins; D033921:Vesicular Transport Proteins
 autophagy; EPG5; corpus callosum agenesis; microcephaly; migration disorder