Moyamoya syndrome and neurofibromatosis type 1

作者：Vargiami Euthymia; Sapountzi Evdoxia; Samakovitis Dimitris; Batzios Spyros; Kyriazi Maria; Anastasiou Athanasia; Zafeiriou Dimitrios I^*

来源：Italian Journal of Pediatrics, 2014, 40(1): 59.

DOI：10.1186/1824-7288-40-59

• Moyamoya syndrome
• Neurofibromatosis type 1 (NF1)
• Vasculopathy
• Infarct
• Central nervous system
• Childhood

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.

• 出版日期2014-6-21