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 |
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Format: | Artikel |
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. |
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ISSN: | 1824-7288 1720-8424 1824-7288 |
DOI: | 10.1186/1824-7288-40-59 |