Aspects of epileptic seizures in children with neurofibromatosis type 1

Abstract

Objectives. Neurofibromatosis type 1 (NF1) is a multisystem genetic neurocutaneous disease, with an autosomal dominant inheritance, affecting in a various degree the skin, the bones and also the nervous system. The neurological manifestation of this condition are due to peripheral nerves and also to associated brain lesions. Epilepsy can be one of the symptoms within NF1, with a double prevalence compared to the general population. The connection between seizures and neurofibromatosis type 1 is a clinically observable reality. Methods. This paper is a retrospective observational study over a period of 4 years of children admitted to pediatric neurology clinic with a diagnosis of NF1. Clinical (neurological symptoms, such as seizures, their onset, psychiatric and cognitive profile) and laboratory data (routine electroencephalography, brain imaging exams) were analyze in order to find a cause-effect relation of this association and also the evolution predictive factors. Results. There were evaluated 67 children with a diagnose of NF1 according to existing diagnostic criteria (1), and the association between epilepsy and neurofibromatosis type 1 has been reported in 4 patients, 2 boys and 2 girls. The onset of seizures had an average age of 36 months. 2 patients had drug resistant focal seizures associated with moderate and severe mental retardation. Cerebral magnetic resonance imaging (MRI), showed typical hyperintense lesions for this neurocutaneous syndrome only in 50% of cases. Conclusions. The article will present clinical and laboratory correlations between the association of seizures and neurofibromatosis in these 4 children, with reference to data published in the literature in this area.