E-ISSN 2757-8062
Volume: 53 Issue: 4 Year: 2022

Quick Search




Case report: Vici syndrome [Zeynep Kamil Med J]
Zeynep Kamil Med J. 2022; 53(3): 159-162 | 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
Department of Pediatrics, University of Health Sciences, Turkey. Zeynep Kamil Maternity and Children’s Training and Research Hospital, İstanbul, Turkiye

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-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.

Keywords: Cardiomyopathy, child, corpus callosum agenesis, Vici syndrome.

Kutlay Gür, Nihan Uygur Külcü, Özlem Erdede, Erdal Sarı, Rabia Gönül Sezer Yamanel, Abdulkadir Bozaykut. Case report: Vici syndrome. Zeynep Kamil Med J. 2022; 53(3): 159-162

Corresponding Author: Nihan Uygur Külcü, Türkiye
Manuscript Language: English
LookUs & Online Makale