Abstracts

Rationale: Approximately 2% of the general population has epilepsy while that reported in patients with NF1 has been between 4.2% to 7%. There is insufficient literature addressing epilepsy within the pediatric NF-1 population. To review the literature regarding epilepsy in NF-1, specifically in pediatric patients, and to present data regarding epilepsy in a cohort of 196 pediatric patients with NF1. Methods: Literature review using PubMed articles from 1993-2012, limited to articles in English and focused on pediatric patient s ages 0-18 years. The majority of the data emanated from articles on epilepsy in NF-1 patients of all ages. The rest of the research papers addressed other areas of NF-1 with brief mention of epilepsy in their patient population. The authors performed a retrospective study ( January 2010-May 2012), on 196 pediatric patients ( ages 14 months to 18 years) with NF-1. Results: The literature review showed a definitive increase in the incidence of epilepsy among NF-1 patients. The combined data from the literature yields 127 with seizures out of a total of 2,378 (5.3%) NF-1 patients with complex partial seizures being the most common seizure type among NF1 patients. Of the 196 Cleveland Clinic Foundation pediatric patients, we identified 12 patients (8 male, 4 female) with seizures; 9 (4.6%) with epileptic seizures and 3 (1.5%) with febrile seizures. Conclusions: The frequency of seizures in the authors population was 12 in 196 (6.1%). The study found 9 (4.6%) patients experiencing epileptic seizures and 3 (1.5%) with febrile seizures. This figure is consistent with the literature for the adult NF-1 population. Both populations show a higher incidence of seizures than seen in the general population. We were not able to determine the etiology of our patient s seizures. Neuroimaging detected 6 patients with noteworthy MRI findings, believed to be related to their seizures. In the 6 other patients, EEG and MRI did not provide any explanation for the seizures. The incidence of epilepsy in NF-1 patients was 4-7%; 2-4 times greater than the general population. Whether NF-1 patients have a greater likelihood of febrile seizure remains undetermined. Whether specific AED are more useful as is Vigabatrin in T.S. patients with infantile spasms needs further data.