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.Case. Here we report two Turkish patients with Vici syndrome. One of these patients had a novel mutation in EPG5 and presented with idiopathic thrombocytopenic purpura (ITP) and maculopapular rashes similar to Stevens–Johnson syndrome, which has been previously reported in only a few cases in the literature. Conclusion. Vici syndrome presents with a typical phenotype which may facilitate diagnosis for infants with multisystemic disorders. ITP and maculopapular rashes might be added to the spectrum of findings of patients with Vici syndrome.
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1. Dionisi Vici C, Sabetta G, Gambarara M, et al. Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers. Am J Med Genet 1988; 29: 1-8.
2. Ehmke N, Parvaneh N, Krawitz P, et al. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. Am J Med Genet A 2014; 164A: 3170-3175.
3. Chiyonobu T, Yoshihara T, Fukushima Y, et al. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet 2002; 109: 61-66.
4. El-Kersh K, Jungbluth H, Gringras P, Senthilvel E. Severe central sleep apnea in Vici syndrome. Pediatrics 2015; 136: e1390-e1394.
5. Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet 2013; 45: 83-87.
6. Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Vici syndrome: a review. Orphanet J Rare Dis 2016; 11: 21.
7. Alzahrani A, Alghamdi AA, Waggass R. A saudi infant with vici syndrome: case report and literature review. Open Access Maced J Med Sci 2018; 6: 1081- 1084.
8. del Campo M, Hall BD, Aeby A, et al. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am J Med Genet 1999; 85: 479-485.
9. Byrne S, Jansen L, U-King-Im JM, et al. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain 2016; 139: 765-781.
10. Halama N, Grauling-Halama SA, Beder A, Jager D. Comparative integromics on the breast cancerassociated gene KIAA1632: clues to a cancer antigen domain. Int J Oncol 2007; 31: 205-210.
11. Balasubramaniam S, Riley LG, Vasudevan A, et al. EPG5-related vici syndrome: a primary defect of autophagic regulation with an emerging phenotype overlapping with mitochondrial disorders. JIMD Rep 2018; 42: 19-29.
12. Ozkale M, Erol I, Gumus A, Ozkale Y, Alehan F. Vici syndrome associated with sensorineural hearing loss and laryngomalacia. Pediatr Neurol 2012; 47: 375-388.
13. Filloux FM, Hoffman RO, Viskochil DH, Jungbluth H, Creel DJ. Ophthalmologic features of Vici syndrome. J Pediatr Ophthalmol Strabismus 2014; 51: 214-220.
14. Huenerberg K, Hudspeth M, Bergmann S, Pai S, Singh B, Duong A. Two cases of Vici syndrome associated with Idiopathic Thrombocytopenic Purpura (ITP) with a review of the literature. Am J Med Genet A 2016; 170A: 1343-1346.
15. Finocchi A, Angelino G, Cantarutti N, et al. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. Am J Med Genet A 2012; 158A: 434-439.