Annals of African Medicine
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, cataracts, and cardiomyopathy. We report the case of a newborn born to consanguineous parents, with a family history of a sibling death of unspecified cause, presenting with hypopigmentation, generalized hypotonia, agenesis of the corpus callos …