Vici syndrome [OMIM242840] is a rare neurodevelopmental disorder with multisystem involvement such as agenesis of corpus callosum, oculocutaneous hypopigmentation, cataracts, failure to thrive, combined immune deficiency, cardiomyopathy and progressive microcephaly. EPG5 (18q12.3) gene is responsible for the pathogenesis of Vici syndrome.
In this report, we present a 3 months old girl who was admitted to our outpatient clinic with dysmorphic appearance, neurodevelopmental delay and respiratory tract infection symptoms. The child has an ex sibling with documented homozygous EPG-5 mutation (-/-). The infant has been hospitalized for 15 times due to urinary, respiratory system infections and sepsis. The patient died at 14 months of age due to multisystem failure secondary to bacterial septicemia.