Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature. Issue 5 (7th February 2016)

• Record Type: Journal Article
• Authors: Huenerberg, Katherine; Hudspeth, Michelle; Bergmann, Shayla; Pai, Shashidhar; Singh, Balvir; Duong, Angie
• Is Part Of: American journal of medical genetics. Volume 170:Issue 5(2016)
• Page Start: 1343
• Page End: 1346
• Publication Date: 2016-02-07
• Subjects: Vici syndrome -- Idiopathic Thrombocytopenic Purpura (ITP) -- EPG5; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37589
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Vici syndrome is a rare congenital disorder first described in 1988. To date, 31 cases have been reported in the literature. The characteristic features of this syndrome include: agenesis of the corpus callosum, albinism, cardiomyopathy, variable immunodeficiency, cataracts, and myopathy. We report two Hispanic sisters with genetically confirmed Vici syndrome who both developed Idiopathic Thrombocytopenic Purpura. To our knowledge, this is an immunologic process that has been previously undescribed within the phenotype of Vici syndrome and should be added to the spectrum of variable immune dysregulation that can be found in these patients. © 2016 Wiley Periodicals, Inc.