Kaoutar Ettouni

Neonatal Presentation of Suspected Vici Syndrome: A Case Report with Multisystem Features

Abstract Vici syndrome is a rare autosomal recessive multisystem disorder caused by biallelic mutations in the EPG5 gene. It is classically characterized by agenesis of the corpus callosum, oculocutaneous hypopigmentation, combined immunodeficiency with recurrent infections, cata...