Clinical Characteristics of Seizures and Course of Epilepsy in Children with Neurofibromatosis Type 1—A Tertiary Center Experience in a Cohort of 118 Children †

Journal article

Background/Objectives: This study aimed to improve the knowledge of seizures and epilepsy in children with neurofibromatosis type 1 (NF1) by evaluating the frequency, clinical characteristics, and risk for epilepsy in children with NF1. Methods: The retrospective study included all NF1 patients aged one month to 18 years treated at the Institute from 2010 to 2025, who experienced seizures. Diagnosis of NF1 was made using revised diagnostic criteria from 2021. The seizures were classified according to the ILAE classification, updated in 2025. Further parameters were analyzed: sex, age at seizure onset, type and duration, electroencephalographic (EEG) findings, brain magnetic-resonance imaging (MRI), anti-seizure medications (ASMs), treatment response, and outcome. The patients were divided into two groups: epilepsy—NF1 patients (14) and non-epilepsy—NF1 patients (104). To evaluate the predictive factors for epilepsy in NF1 patients, univariate and multivariate logistic regression analyses were performed. Results: The study included 118 children with NF1. In 14 children (11.9%), a diagnosis of epilepsy was established. Ten of 14 children (71.4%) experienced SE. Good seizure control was achieved in 13/14. We found statistically significant predictive values of hydrocephalus (p = 0.001), brain atrophy (p = 0.002), and vasculopathy (p = 0.015) for epilepsy in children with NF1. Conclusions: In our cohort, the frequency of epilepsy in NF children was at least ten times higher than in the general population. The predictive factors for epilepsy were hydrocephalus, brain atrophy, and vasculopathy. Recommendations for rescue medication and parental education are important, since status epilepticus occurs in a high percentage of NF1 patients with epilepsy.

Authors: Kravljanac, R; Beđik, J; Bruno, I; Vučetić Tadić, B; Popović, S

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: MDPI
• Journal: Diagnostics
• Volume: 15
• Issue: 21
• Article number: 2690
• Publication date: 2025-10-24
• Acceptance date: 2025-10-17
• DOI: 10.3390/diagnostics15212690
• EISSN: 2075-4418
• ISSN: 2075-4418
• Language: English
• Keywords: status epilepticus; epilepsy; NF1; seizures; children