title: Clinical and instrumental (magnetic resonance imaging [MRI] and multimodal evoked potentials) follow-up of brain lesions in three young patients with neurofibromatosis 1.
abstract: Diagnosis of neurofibromatosis 1 is based on clinical criteria. In a large number of children with neurofibromatosis 1, magnetic resonance imaging (MRI) reveals high-signal T(2)-weighted intensities in different brain regions, defined as unidentified bright objects. These lesions are asymptomatic; most of them regress spontaneously with age, but the presence of contrast enhancement or mass effect in them usually strongly suggests an increased risk of proliferative changes. To date, few studies have focused on evoked potentials in patients with neurofibromatosis 1, and the reported abnormalities did not have significant clinical correlations. We describe the clinical and instrumental (MRI and evoked potentials) follow-up of three patients with neurofibromatosis 1. MRI and evoked potentials showed subclinical involvement of the central nervous system. Some MRI T(2)-weighted hyperintensities showed enhancement and mass effect of uncertain significance. During follow-up, the MRI lesions spontaneously decreased in size or enhancement, allowing us to exclude the hypothesis of proliferative lesions; in the same way, some asymptomatic evoked potential abnormalities disappeared. These findings suggest that both MRI and evoked potentials could be useful in the detection and monitoring of cerebral complications of neurofibromatosis 1.
authors.affiliation: Department of Neurological and Psychiatric Sciences, Child Neuropsychiatric Service, University of Bari, Bari, Italy. l.margari@neurol.uniba.it
authors.forename: Lucia
authors.initials: L
authors.lastname: Margari
authors.forename: Anna
authors.initials: A
authors.lastname: Presicci
authors.forename: Patrizia
authors.initials: P
authors.lastname: Ventura
authors.forename: Simona
authors.initials: S
authors.lastname: Maria Bacca
authors.forename: Gianni
authors.initials: G
authors.lastname: Iliceto
authors.forename: Nicola
authors.initials: N
authors.lastname: Medicamento
authors.forename: Maura
authors.initials: M
authors.lastname: Buttiglione
authors.forename: Tommaso
authors.initials: T
authors.lastname: Perniola
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D001932:Brain Neoplasms / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology*; D002648:Child; D004569:Electroencephalography; D005071:Evoked Potentials / Q000502:physiology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000175:diagnosis* / Q000503:physiopathology*; D011237:Predictive Value of Tests