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Moyamoya syndrome and neurofibromatosis type 1
Euthymia Vargiami, Evdoxia Sapountzi, Dimitris Samakovitis
11st Department of Pediatrics, Aristotle University of Thessaloniki, Egnatia St, 106, Thessaloniki 54622, Greece. jeff@med.auth.gr.
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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