title: Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature.
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.
authors: Departmentof Pathology, Medical University of South Carolina, Charleston, South Carolina.
authors: Katherine
authors: K
authors: Huenerberg
authors: Division of Hematology/Oncology, Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.
authors: Michelle
authors: M
authors: Hudspeth
authors: Division of Hematology/Oncology, Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.
authors: Shayla
authors: S
authors: Bergmann
authors: Division of Medical Genetics, Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.
authors: Shashidhar
authors: S
authors: Pai
authors: Division of Medical Genetics, Department of Pediatrics, Medical University of South Carolina, Charleston, South Carolina.
authors: Balvir
authors: B
authors: Singh
authors: Departmentof Pathology, Medical University of South Carolina, Charleston, South Carolina.
authors: Angie
authors: A
authors: Duong
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D000071183:Autophagy-Related Proteins; D002386:Cataract / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D018389:Codon, Nonsense; D003337:Corpus Callosum / Q000254:growth & development / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051907:Lysosomal Membrane Proteins; D011506:Proteins / Q000235:genetics*; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D033921:Vesicular Transport Proteins
chemical_list: D000071183:Autophagy-Related Proteins; D018389:Codon, Nonsense; C000592185:EPG5 protein, human; D051907:Lysosomal Membrane Proteins; D011506:Proteins; D033921:Vesicular Transport Proteins
keywords: EPG5; Idiopathic Thrombocytopenic Purpura (ITP); Vici syndrome