Vici Syndrome with a Novel Mutation in EPG5

Abstract

Vici syndrome is a neurodevelopmental disorder of the autophagy pathway. Almost all cases reported have the cardinal features of agenesis of corpus callosum, cataract, cardiomyopathy, immunodeficiency and hypopigmentation. 8-month-old boy with developmental delay, myoclonic jerks, repeated respiratory infections, coarse facial features, cataract and hypopigmented hair. Echocardiography revealed dilated cardiomyopathy and magnetic resonance imaging of brain suggested agenesis of corpus callosum. Exome sequencing detected a novel homozygous nonsense mutation in the EPG5 gene. Establishing a definite diagnosis helped in proper prognostication, providing genetic counseling and prenatal diagnosis to the family. Though uncommon, presence of the characteristic features makes Vici syndrome a clinically recognizable cause of developmental delay.