ObjectiveMalformations of cortical development (MCDs) are increasingly identified as important etiology for refractory epilepsy. Little is known about the spectrum, distribution and clinical features of MCDs, especially in a resource-limited region. This study investigated the distribution and compared the clinical features and long-term prognosis between simple and multiple forms. MethodsConsecutive 150 epilepsy patients with pathologically or radiologically confirmed MCDs were included from a tertiary epilepsy center in western China. Patients were divided into three subtypes according to the scheme of Barkovich, also Simple and Multiple forms based on whether single type of MCDs or other brain developmental abnormalities co-existed. ResultsThe most common type of MCDs is focal cortical dysplasia, and China is still in the early phase of implementing surgical treatments. We found perinatal insults more common in sub-group III patients. Furthermore, 'Multiple' form was identified in 36/150 patients. Patients with heterotopias were more commonly associated with other abnormalities. ConclusionMCDs are critical causes for epilepsy, also a big challenge for resource-limited countries. Imaging techniques are crucial in diagnosing and classifying cortical deformities. Multiple malformations lead to more severe clinical features and worsen the prognosis, helping physicians to seek the best therapeutic option, also assists in classifying MCDs.
ObjectiveTo explore the efficacy and safety of ketogenic diet (KD) in the treatment of drug-resistant epilepsy in children with malformations of cortical development (MCD). MethodsThe clinical data of 10 children with drug-resistant epilepsy caused by MCD treated in the Epilepsy Center of Children's Hospital affiliated to Shandong University from May 2021 to February 2023 were analyzed retrospectively. All of them received classical KD treatment for the first time. The patients were followed up at 1, 3, 6 and 12 months after KD treatment. The clinical efficacy was evaluated by Engel grade and the adverse reactions were recorded at the same time. ResultsThere were 10 patients in this study, including 5 males and 5 females. The age of onset was 0.2~36.0 (10.3±11.1) months, 2.0~31.0 (9.7±8.5) months, and the age of starting KD was 3.0~50.0 (20.0±15.7) months. Cranial imaging showed that there were 2 cases of hemimegalencephaly, 1case of lissencephaly, 1 case of pachygyria combine polymicrogyria, and 6 cases of FCD,3 had gene abnormality (2 cases of DEPDC5 gene, 1 case of ARX gene). All children had different degrees of developmental retardation before KD treatment. The antiseizure medications taken before KD treatment were 2.0~5.0 (3.2±0.9). 5/10 (50%) children had a >50% reduction in seizure frequency at 3 months on the diet, 2/10 (20%) children had a seizure free response. The rate of development improvement was 50.0% (5/10) at 3 months. 5 cases had mild adverse reactions (50%), including 1 case of hypokalemia and 4 cases of gastrointestinal reactions, all of which were relieved after the reduction of the proportion of KD diet. None of the children stopped using KD. ConclusionKD therapy is a safe and effective method for the treatment of drug-resistant epilepsy in children caused by MCD, and some children can improve their developmental level.