Abstract Details

Neurofibromatosis type 1 (NF-1) is the most common neuro-cutaneous phacomatosis in children. Patients with NF1 tend to have multiple neuro-developmental comorbidities but epilepsy is rare in pediatric age group. Exact pathophysiological pathways of NF-1 epileptogenesis are not well understood. Available publications of pediatric epilepsy characteristics in NF-1 are sparse.

We have reviewed children who were seen in our institution as new or follow-up patients with NF-1 for 5 years (2016-2020). Retrospective chart review was conducted. Patients with comorbid epilepsy based on the International League Against Epilepsy revised definition of 2017 were identified. Demographic, clinical, neuro-radiological and neurophysiological data were reviewed and analyzed.

Out of identified 118 pediatric NF-1 patients, 16 patients (13%) were diagnosed with epilepsy. 10 patients were female and 6 were males. Average age of epilepsy diagnosis was 8 years old.  69% had focal seizure semiology, whereas 31% had generalized seizures. 75% were well controlled on no or single seizure medication. Focal epileptiform discharges were the most prevalent EEG signature in 81% of patients, although 1 patient (6%) had normal interictal EEG. All patients had T2 hyperintense foci representing typical white matter spongiform changes known to be associated with NF-1. 8 patients (50%) had intracranial tumors with optic nerve pathway glioma being the most common (identified in 4 patients (25% of total cohort).