Moyamoya syndrome and neurofibromatosis type 1.
Τίτλος | Moyamoya syndrome and neurofibromatosis type 1. |
Publication Type | Journal Article |
Year of Publication | 2014 |
Authors | Vargiami, E., Sapountzi E., Samakovitis D., Batzios S., Kyriazi M., Anastasiou A., & Zafeiriou D. I. |
Journal | Ital J Pediatr |
Volume | 40 |
Pagination | 59 |
Date Published | 2014 |
ISSN | 1824-7288 |
Λέξεις κλειδιά | Brain, 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. |
DOI | 10.1186/1824-7288-40-59 |
Alternate Journal | Ital J Pediatr |
PubMed ID | 24952383 |
PubMed Central ID | PMC4104827 |