Abstracts

Rationale: Neurofibromatosis 1 (NF-1) is associated with an incidence of epilepsy which is up to seven times greater than the general population and can be refractory in up to 30% of those cases. Surgical treatment has rarely been reported in the literature for these patients. This treatment may be under-utilized due to concerns of lack of a single seizure focus secondary to the multiple cerebral lesions that may be present in this condition. We report a patient with type 1 neurofibromatosis with medically refractory epilepsy who responded to right temporal lobectomy. Methods: 46 year old Caucasian female suffering from NF-1 has medically refractory seizures which began at age 32 years. Her seizures were of two types: relatively infrequent generalized tonic clonic seizures proceeded by an aura of déjà vu and a second type consisting of staring spells followed by disorientation occurring several times weekly. She had failed trials of eight antiepileptic drugs and outside. She was referred for VNS assessment due to concerns of bilateral seizure onset. Results: VEEG showed two seizures with right temporal onset supported by theta activity on EEG as well as clinical evidence of left facial grimacing, hand automatisms and loss of awareness. Interictal EEG showed right temporal spikes and PET showed right temporal hypometabolism. Ictal SPECT showed hyperperfusion in right temporal area. Repeat MRI found increased T2 signal in the right hippocampus. Hippocampal volumetrics showed smaller right temporal volume. Despite concerns for potential for rare seizures to occur from other areas, right temporal lobectomy was performed and patient has only had a single seizure in six months post operatively. Pathological specimen showed mesial temporal sclerosis and microdysgenesis with inadequate sampling to assess for hamartoma. Conclusions: Patients with neurofibromatosis and refractory epilepsy should be considered for epilepsy surgery similar to other neurocutaneous syndromes (such as tuberous sclerosis) where focal surgery is effective despite multiple lesions. Late onset of seizures is not usually associated with hippocampal sclerosis. The finding of hippocampal sclerosis suggests that this may represent either dual pathology or that is part of the hamartomatous process.