Phakomatoses. Part I: Neurofibromatosis type 1: common and uncommon neuroimaging findings.
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.
Faro
S H
SH
Medical College of Pennsylvania, Hahnemann University, MCP Hospital, Philadelphia, USA.
Higginson
S N
SN
Koenigsberg
R
R
Poon
C M
CM
Swidryk
J P
JP
Mohammed
F B
FB
Zimmerman
R A
RA
Chen
C Y
CY
D001921:Brain / Q000473:pathology; D003952:Diagnostic Imaging; D006801:Humans; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D009900:Optic Nerve / Q000473:pathology; D020339:Optic Nerve Glioma / Q000175:diagnosis; D013116:Spinal Cord / Q000473:pathology; D013131:Spine / Q000473:pathology