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

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Hizal M., Yeke B., YILDIZ Y., Ozturk A., Gurbuz B. B., COŞKUN T.

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

  • Publication Type: Article / Article
  • Volume: 62 Issue: 3
  • Publication Date: 2020
  • Doi Number: 10.24953/turkjped.2020.03.015
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.474-478
  • Keywords: Vici syndrome, autophagy, oculocutaneous albinism, EPG5 mutation, IMMUNODEFICIENCY
  • Dokuz Eylül University Affiliated: Yes

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.