E-ISSN 2757-8062
Volume : Issue : Year : 2022

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Zeynep Kamil Medical Journal
Case Report: Vici Syndrome [Zeynep Kamil Med J]
Zeynep Kamil Med J. Ahead of Print: ZKMJ-49379 | DOI: 10.14744/zkmj.2022.49379

Case Report: Vici Syndrome

Kutlay Gür, Nihan Uygur Külcü, Özlem Erdede, Erdal Sarı, Rabia Gönül Sezer Yamanel, Abdulkadir Bozaykut
University Of Health Sciences, Zeynep Kamil Maternity and Children Training and Research Hospital, Department of Pediatrics

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.

Keywords: Vici Syndrome, child, cardiomyopathy, corpus callosum agenesis

Corresponding Author: Nihan Uygur Külcü, Türkiye
Manuscript Language: English
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