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  • Title: Moyamoya syndrome and neurofibromatosis type 1.
    Author: Vargiami E, Sapountzi E, Samakovitis D, Batzios S, Kyriazi M, Anastasiou A, Zafeiriou DI.
    Journal: Ital J Pediatr; 2014 Jun 21; 40():59. PubMed ID: 24952383.
    Abstract:
    Neurofibromatosis type 1 (NF1) is the most prevalent autosomal dominant genetic disorder among humans. NF1 vasculopathy is a significant but underrecognized complication of the disease, affecting both arterial and venous blood vessels of all sizes. Moyamoya syndrome is a cerebral vasculopathy that is only rarely observed in association with NF1, particularly in the pediatric age range. Herein, we report of a 5-year-old female with NF1 and moyamoya syndrome and we briefly review the existing literature.
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