Focal malformations of cortical development: a most relevant etiology of epilepsy in children

Abstract

Malformations of cortical development (MCD) are now well established as a most prevalent and relevant etiology of medically refractory epilepsies in children and adolescents. Focal cortical dysplasia (FCD) and hemimegalencephalies (HMG) occupy a special status because their focality (or in the case of HMG, their unihemispheric distibution) makes them amenable to surgical treatment to attempt seizure control. Since interictal epileptiform discharges and frequent seizures can lead to abnormal development because of brain plasticity during early childhood, the aim of surgical treatment is not only seizure control but also the redirection of development toward more physiological paths. In this review, we propose an "imaging-semiological organization" including (1) patients whose dysplastic lesion surrounds the fronto-rolandic cortex with increased signal and a transmantle sign, (2) multilobar hemispheric lesions, predominating in the anterior or posterior quadrants with large areas of abnormal gyration, increased cortical thickness, and gray-white blurring, (3) anterior temporal dysplasias usually featuring volume reduction combined with blurring of the underlying white matter in the temporal pole, and (4) a very relevant group of patients with refractory seizures, normal or roughly normal intellect, and normal MRI, later shown to harbor microscopic "nidus" of dysplastic cells. Classification takes into account the cortical disorganization, the presence of aberrant cellular elements, and the association with other lesion types.