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Phakomatoses. Part I: Neurofibromatosis type 1: common and uncommon neuroimaging findings
S H Faro1, S N Higginson, R Koenigsberg
1Medical College of Pennsylvania, Hahnemann University, MCP Hospital, Philadelphia, USA.
Abstract:
Neurofibromatosis type I (NF-1) belongs to a family of diseases named phakomatoses, which are characterized by congenital malformations of ectodermal structures. Neurofibromatosis type I affects 1 in 3000 people, and has a diverse clinical presentation as well as an array of imaging findings. In this article the authors review the various neuroimaging findings present in NF-1, including abnormalities of the parenchyma, meninges, vessels, and associated neoplasms.