Seizures in neurofibromatosis 1

Neurofibromatosis 1 is a common, genetically transmitted neurodevelopmental disorder with a high potential to cause subcortical focal brain lesions. A lthough seizures occasionally complicate neurofibromatosis 1, they have not been characterized adequately in the disease. Other phacomatoses with atte ndant subcortical focal brain lesions have been associated with an evolutio n from generalized to focal-onset epilepsy. This evolution may be related t o the cortical dysplasias that also appear in such disorders. Cortical dysp lasias, although occasionally found in neurofibromatosis 1 epileptic patien ts, are not as frequent as in other phacomatoses, The authors retrospective ly screened 499 neurofibromatosis 1 patients for the prevalence and etiolog y of seizures, their response to therapy, and the evolution of seizure type over time, The prevalence of epileptic seizures (4.2%) was about twice the prevalence in the general population. There were no significant cortical d ysplasias identified radiographically nor was there a relationship among th e presence of subcortical focal brain lesions and seizure type, response to treatment, or evolution of epilepsy in the neurofibromatosis 1 population. The authors' data do not suggest an ontogeny of epilepsy in neurofibromato sis 1 that is different from the general epileptic population. (C) 1998 by Elsevier Science Inc. All rights reserved.