Moyamoya syndrome and neurofibromatosis type 1.
| Title | 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 |
| Keywords | 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 |
