Moyamoya syndrome and neurofibromatosis type 1

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 i...

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Veröffentlicht in:Italian journal of pediatrics 2014-06, Vol.40 (1), p.59-59, Article 59
Hauptverfasser: Vargiami, Euthymia, Sapountzi, Evdoxia, Samakovitis, Dimitris, Batzios, Spyros, Kyriazi, Maria, Anastasiou, Athanasia, Zafeiriou, Dimitrios I
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Sprache:eng
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Zusammenfassung: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.
ISSN:1824-7288
1720-8424
1824-7288
DOI:10.1186/1824-7288-40-59