Δημοσίευση

Moyamoya syndrome and neurofibromatosis type 1.

ΤίτλοςMoyamoya syndrome and neurofibromatosis type 1.
Publication TypeJournal Article
Year of Publication2014
AuthorsVargiami, E., Sapountzi E., Samakovitis D., Batzios S., Kyriazi M., Anastasiou A., & Zafeiriou D. I.
JournalItal J Pediatr
Volume40
Pagination59
Date Published2014
ISSN1824-7288
Λέξεις κλειδιάBrain, Carotid Artery, Internal, Child, Preschool, Female, Humans, Magnetic Resonance Imaging, Moyamoya Disease, Neurofibromatosis 1
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.

DOI10.1186/1824-7288-40-59
Alternate JournalItal J Pediatr
PubMed ID24952383
PubMed Central IDPMC4104827

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