title: Epilepsy in neurofibromatosis 1.
abstract: Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations are mainly represented by tumors such as optic gliomas, focal areas of high T2-weighted signal known as unidentified bright objects, and mental retardation or learning disabilities. The prevalence of seizures has been reported to range from 3.8 to 6%. In the present study, we evaluated prevalence, type, and etiology of epilepsy in a neurofibromatosis 1 population. A retrospective analysis of 198 patients affected by neurofibromatosis 1 was performed. Fourteen patients (7%) were found to be epileptic. Every patient underwent electroencephalographic examination and neuroimaging investigations. Thirteen were submitted to magnetic resonance imaging (MRI) study and one to computed tomographic (CT) scanning. Single-photon emission computed tomographic and positron emission tomographic studies were performed in a few selected cases. Seizures were partial in 12 of these (85%) and generalized in 2 (15%). In nine (64%), epilepsy was secondary to brain lesions: five of these had cerebral tumors (three with epilepsy as the fist symptom), three had cortical malformation, and one had mesial temporal sclerosis. Seizures were controlled rapidly in eight (57%) and drug resistant in four (29%). Two patients were lost at follow-up. All patients with uncontrolled seizures had severe mental retardation, and three of these had malformations of cortical development. Our observations and our re-evaluation of the literature indicate that patients with neurofibromatosis 1 have an increased risk of epilepsy related to intracranial masses and cytoarchitectural abnormalities, and seizures can represent the first symptom of a tumor or cortical malformation. Brain MRI and, in selected cases, functional studies appear to be useful in patients with neurofibromatosis 1 who present with seizures, especially if associated with mental retardation.
authors.affiliation: Department of Pediatrics, University of Siena, Siena, Italy.
authors.forename: Rossella
authors.initials: R
authors.lastname: Vivarelli
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.forename: Fulvia
authors.initials: F
authors.lastname: Calabrese
authors.forename: MariaAngela
authors.initials: M
authors.lastname: Farnetani
authors.forename: Rosanna
authors.initials: R
authors.lastname: Di Bartolo
authors.forename: Guido
authors.initials: G
authors.lastname: Morgese
authors.forename: Paolo
authors.initials: P
authors.lastname: Balestri
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000002:abnormalities / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D004827:Epilepsy / Q000150:complications / Q000453:epidemiology / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications*; D015995:Prevalence; D012189:Retrospective Studies; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed