Two cases of Vici syndrome presenting with corpus callosum agenesis, albinism, and severe developmental delay


Hızal M., Yeke B. , YILDIZ Y. , Öztürk A., Gürbüz B. B. , COŞKUN T.

TURKISH JOURNAL OF PEDIATRICS, vol.62, no.3, pp.474-478, 2020 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.03.015
  • Title of Journal : TURKISH JOURNAL OF PEDIATRICS
  • Page Numbers: pp.474-478
  • Keywords: Vici syndrome, autophagy, oculocutaneous albinism, EPG5 mutation, IMMUNODEFICIENCY

Abstract

Background. Vici syndrome is a rare autosomal recessive disease with phenotypically heterogeneous presentation. Characteristic features of the disease are oculocutaneous albinism, corpus callosum agenesis, cataract, cardiomyopathy, and immunodeficiency.