Objective: Epilepsy occurs in approximately 4-7% of individuals with Neurofi bromatosis type 1 (NF1). This is higher than the 1-2% value reported for the general population. The aim of the study was to describe the clinical characteristics and outcomes of individuals with NF1 and epilepsy.

Material and Methods: This study evaluated 35 patients who were followed up for NF1 at our tertiary care center between January 2000 and February 2010. Every patient underwent electroencephalographic examination and neuroimaging investigations.

Results: A history of at least one unprovoked seizure was present in 34.2% of NF1 patients and 17.1% had documented epilepsy. Focal seizures were the most common type, occurring in 57% of individuals, although generalized seizures were also noted. Epilepsy presented with brain lesions such as cerebral hamartoma in two patients and unidentifi ed bright objects in three patients. Seizures were controlled with a single antiepileptic drug in three (50%) and multiple antiepileptic drugs in three (50%) patients.

Conclusion: Our observations and our re-evaluation of the literature indicate that patients with neurofi bromatosis 1 have an increased risk of epilepsy related to intracranial lesions and seizures can represent the fi rst symptom of a tumor or cortical lesions. We conclude that radiological follow-up should be considered in NF1 patients with seizures

Keywords: Child, Epilepsy, Seizures, Neurofi bromatosis type 1