Epilepsy due to a cortical malformation in a Neurofibromatosis type 1 patient

Neurofibromatosis 1, an autosomal dominant neurocutaneous disorder characterized by café-au-lait macules, Lisch nodules, neurofibromas, and learning disabilities, affects approximately 1 in 3000 people. Unlike other neurocutaneous disorders such as tuberous sclerosis, epilepsy is not a common clinical feature, occurring in 3.8–7% of NF1 patients. Rarely, case reports have described patients with NF1 and epilepsy due to malformations of cortical development. The types of malformations have included hemimegalencephaly, cerebellar leptomeningeal heterotopias, transmantle cortical dysplasia, periventricular band of heterotopic gray matter, pachygyria, occipital encephalocele, and unilateral as well as bilateral polymicrogyria. We report an additional case of epilepsy in a Neurofibromatosis 1 patient with heterotopic gray matter and closed-lip schizencephaly.