European Journal of Pediatrics vol:159 issue:8 pages:555-562
In this review, a simplified scheme for classification of cortical malformations is introduced and illustrated based on the work of Barkovich et al. . Detailed MRI studies identify cortical malformations as a major cause of epilepsy in children. Two aspects that are becoming increasingly important for the paediatrician are emphasised. First, knowledge of the genetic background of cortical malformations is necessary for appropriate genetic counselling. Although the majority of cortical malformations occur sporadically, recent studies have shown a familial pattern in specific epilepsy syndromes associated with cortical malformations. Second, the epilepsy becomes refractory to the common anti-epileptic drugs in many patients with cortical malformations so that epilepsy surgery should be considered. In this respect, the paediatrician can play a pivotal role in referring candidate patients for further specialised assessment. Conclusion: The input of the paediatrician will become crucial to link clinical, genetic and neuro-imaging data in children with the great variety of possible cortical malformations.