title: MRI diagnosis of NF-1 in children without café-au-lait skin lesions.
abstract: Three of ten children with optic gliomas satisfy the 1987 National Institutes of Health consensus criteria for neurofibromatosis type 1 (NF-1). The diagnosis in these cases is based on the presence of café-au-lait skin lesions in addition to the optic glioma. Two children without skin lesions have typical findings on magnetic resonance imaging (MRI) that also suggest a diagnosis of NF-1. A review of 281 NF-1 children with brain MRI results demonstrates the presence of these abnormalities in 57% of the cases. It is suggested that this MRI abnormality is sufficiently specific to add this feature to the list of diagnostic criteria. When MRI findings are present in a child with optic glioma and without skin lesions, counseling should be given for NF-1. It is noteworthy that these typical MRI findings in NF-1 are less common in adulthood, apparently because of spontaneous resolution.
authors.affiliation: Department of Neurology, Bascom Palmer Eye Institute, University of Miami School of Medicine, Florida, USA.
authors.forename: R G
authors.initials: RG
authors.lastname: Curless
authors.forename: M
authors.initials: M
authors.lastname: Siatkowski
authors.forename: J S
authors.initials: JS
authors.lastname: Glaser
authors.forename: N J
authors.initials: NJ
authors.lastname: Shatz
mesh_terms: D000293:Adolescent; D019080:Cafe-au-Lait Spots / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D006801:Humans; D015994:Incidence; D008279:Magnetic Resonance Imaging; D009456:Neurofibromatosis 1 / Q000175:diagnosis*; D019574:Optic Nerve Neoplasms / Q000175:diagnosis* / Q000453:epidemiology