V

 

Vici sendromu

Kalıtsal - AR

Gelişme geriliği

Mikrosefali

Hipertelorizm

İşitme sorunları

Bilateral katarakt

Oküler/retinal hipopigmentasyon

Nistagmus

Mikrognati

Yarık dudak

Yarık damak

Dilate kardiyomyopati

Sol ventrikül hipertrofisi

Kalp yetmezliği bulguları

Yineleyen solunum sistemi infeksiyonları

Albinizm (deri ve saç rengi bulguları)

Deride hipopigmentasyon

Kronik mukokütane candidiasis

Hipotoni

Myopati

Postür bozukluğu

Corpus callosum agenezi

Serebellumda vermis hipoplazisi

Psikomotor gerilik

Epileptik ataklar

Timus hipoplazisi

CD4+ lenfosit azlığı

Yineleyen infeksiyon hastalıkları

IgG düzeyi düşük

 

  • Chiyonobu T, Yoshihara T, Fukushima Y. et al. American Journal of Medical Genetics, 109: 61-66, 2002

  • Finocchi A, Angelino G, Cantarutti N, et al. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. American Journal of Medical Genetics, 158A: 434-439, 2012

  • Said E, Soler D, Sewry C. Vici syndrome--a rapidly progressive neurodegenerative disorder with hypopigmentation, immunodeficiency and myopathic changes on muscle biopsy. American Journal of Medical Genetics, 158A: 440-444, 2012

  • Cullup T, Kho AL, Dionisi-Vici C, et al. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nature Genetics, 45: 83-87, 2013

  • 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. American Journal of Medical Genetics, 164A: 3170-3175, 2014

  • Maillard C, Cavallin M, Piquand, K, et al. Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation. American Journal of Medical Genetics, 173A: 706-711, 2017