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Epilepsy in Neurofibromatosis 1

Department of Pediatrics, University of Siena, Siena, Italy

Salvatore Grosso

Department of Pediatrics, University of Siena, Siena, Italy

Fulvia Calabrese

Department of Pediatrics, University of Siena, Siena, Italy

MariaAngela Farnetani

Department of Pediatrics, University of Siena, Siena, Italy

Rosanna Di Bartolo

Department of Pediatrics, University of Siena, Siena, Italy

Guido Morgese

Department of Pediatrics, University of Siena, Siena, Italy

Paolo Balestri

Department of Pediatrics, University of Siena, Siena, Italy, balestri{at}unisi.it

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 first 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. (J Child Neurol 2003;18:338—342).

Journal of Child Neurology, Vol. 18, No. 5, 338-342 (2003)
DOI: 10.1177/08830738030180050501


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