Objective To explore the efficacy and safety of the ketogenic diet (KD) in the treatment of genetic developmental and epileptic encephalopathy (DEE). Methods Clinical data from 42 children with genetically confirmed refractory epileptic encephalopathy treated in the Department of Neurology, Jinan Children’s Hospital, between January 2021 and October 2023 were retrospectively analyzed. A classic KD protocol was implemented, and outcomes including seizure frequency, electroencephalogram (EEG) improvement, and adverse reactions were observed at 3, 6, and 12 months post-treatment. Results Among the 42 children, the seizure-free rates at 3, 6, and 12 months of KD treatment were 16.7%, 16.7%, and 14.3%, respectively, while the effective seizure control rates were 69.0%, 52.4%, and 35.7%. At 3 months, comparison of baseline characteristics between the effective and ineffective groups showed no statistically significant differences in gender (P=0.095), age at onset (P=0.648), age at KD initiation(P=0.768), disease duration before KD (P=0.519), presence of abnormal brain MRI findings (P=0.226), epilepsy syndrome classification(P=0.344), or ion channel gene involvement (P=0.066). EEG improvement rates at 6 and 12 months were 54.2% (24 cases) and 42.8% (14 cases), respectively. Retention rates for KD at 3, 6, and 12 months were 100.0%, 71.4%, and 42.8%. Adverse reactions occurred in 7 patients (16.7%), primarily gastrointestinal symptoms (vomiting, constipation, diarrhea; 6 cases) and elevated uric acid (1 case), with no severe adverse events reported. Conclusion KD is an effective treatment for genetic DEE with favorable short-term safety, though long-term adherence requires attention.
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.
