Abstracts

Gliomatosis cerebri is a rare neoplastic disorder characterized by widespread proliferation of glia cells throughout cerebral hemispheric grey and white matter. The clinical manifestations are variable but seizures are an especially common presenting sign in childhood. We report 4 pre-adolescent children presenting with pharmaco-resistant partial epilepsy who were referred for epilepsy surgery. Case report Patients were all males ranging in age from 7 months-12 years. Mean seizure duration was 10.5 months; 3 patients were experiencing multiple daily seizures and one had monthly attacks. Two patients had mild hemipareses and one patient with infantile spasms was developmentally delayed. Ictal semiology was consistent with complex partial seizures in 2 patients, simple partial seizures in 1 patient and asymmetric infantile spasms in 1 patient. Imaging features consistent with widespread hemispheric tumor infiltration were present in three patients; two were initially misdiagnosed as hemispheric cortical dysplasia and hemimegalencephaly. One patient evidenced tumoral involvement of the temporal lobe only. Infiltration of the basal ganglia was noted in three patients and one patient also had thalamic infiltration. Scalp EEG recording in 2 patients revealed attenuation of background rhythms, slowing and occasional sharp waves over the involved cortical regions. The patient with infantile spasms had a hypsarrhythmic EEG that evolved over two months to generalized sharp wave discharges and multifocal spikes. Interictal SPECT in one patient revealed widespread hemispheric hypoperfusion. MR Spectroscopy in one patient revealed NAA depletion and choline elevation consistent with a neoplasm. Three patients underwent resective surgery (functional hemispherectomy, n=2; temporal lobectomy, n=1). ECoG revealed prominent voltage depression, discontinuous activity and multifocal spiking. All are alive and seizure-free at mean follow-up of 61 months Gliomatosis cerebri is a cause of medically resistant partial epilepsy that may present in very early life. Epilepsy surgery is an effective therapy that can improve quality of life despite widespread tumoral involvement. The lack of a discrete lesion may lead to diagnostic uncertainty, especially in infancy.