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Open Access 01-12-2014 | Case report

Moyamoya syndrome and neurofibromatosis type 1

Authors: Euthymia Vargiami, Evdoxia Sapountzi, Dimitris Samakovitis, Spyros Batzios, Maria Kyriazi, Athanasia Anastasiou, Dimitrios I Zafeiriou

Published in: Italian Journal of Pediatrics | Issue 1/2014

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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Title: Moyamoya syndrome and neurofibromatosis type 1
Authors: Euthymia Vargiami
Evdoxia Sapountzi
Dimitris Samakovitis
Spyros Batzios
Maria Kyriazi
Athanasia Anastasiou
Dimitrios I Zafeiriou
Publication date: 01-12-2014
Publisher: BioMed Central
Published in: Italian Journal of Pediatrics / Issue 1/2014
Electronic ISSN: 1824-7288
DOI: https://doi.org/10.1186/1824-7288-40-59

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