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Abstract Details

Epilepsy Characteristics in Children With Neurofibromatosis type 1, What We Have Learnt From a Tertiary Center Five Years’ Experience
Child Neurology and Developmental Neurology
P12 - Poster Session 12 (5:30 PM-6:30 PM)
6-005

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.

To retrospectively study clinical and diagnostic characteristics of Neurofibromatosis type 1 - associated epilepsy in children 

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).

Epilepsy is a rare NF-1 comorbidity, although it is probably underdiagnosed given the relatively higher prevalence in our study. Seizures are often of focal semiology and likely to be easily controlled. Focal and multifocal spike epileptiform discharges are the typical interictal EEG findings. Half of the patients have brain tumors but correlation with clinical and EEG findings with presence of intracranial lesions is poor, indicating additional pathways for cortical excitability.
Authors/Disclosures
Abdulhafeez Khair, MD (Child Neurology Center)
PRESENTER
Dr. Khair has nothing to disclose.
Gurcharanjeet Kaur, MBBS (Department of Neurology) Dr. Kaur has nothing to disclose.
Stephen Falchek, MD (Nemours Children's Hospital) Dr. Falchek has nothing to disclose.