Kutlay GÜR, Nihan UYGUR KÜLCÜ, Özlem ERDEDE, Erdal SARI, Rabia Gönül SEZER YAMANEL, Abdulkadir BOZAYKUT

Case report: Vici syndrome

Vici syndrome (OMIM242840) is a rare neurodevelopmental disorder with multisystem involvement such as agenesis of corpus callosum, oculocutaneous hypopigmenta- tion, 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-month-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.

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