ObjectiveWe report two family and one sporadic case with dyssynergia cerebellaris myoclonica, investigate the clinical and neural electrophysiological features. MethodsThe proband and sporadic patient was examined by clinical, neuroimaging, video-EEG and synchronous electromyography. ResultsThere were 6 patients with dyssynergia cerebellaris myoclonica of the 27 family members in the first family(3 male and 3 female). There were 4 patients with dyssynergia cerebellaris myoclonica of the 20 family members in the second family(2 male and 2 female). All patiens had disproportionately myoclonus, epilepsy and progressive cerebellar ataxia. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the bilateral brain both in ictal and interictal period, sometimes it is especially in central, parietal and frontal area. EEG showed bursts of spike-slow wave, polyspilke-slow wave distributing in the central, parietal and frontal area in interictal period. Pathology of the skin and muscles are normal. ConclusionThe diagnosis of dyssynergia cerebellaris myoclonica was mainly based on typical clinical manifestations, brain MRI and EEG changes.Long time video EEG and synchronous EMG is important for the diagnosis. Skin and muscles pathology can be normal.
Objective To investigate the efficacy and safety of the ketogenic diet (KD) treatment in refractory epilepsy (RE) with myoclonic seizures as the predominant seizure type. Methods Clinical data were collected from 34 pediatric patients with RE characterized by myoclonic seizures who underwent KD treatment at the Department of Neurology, Jinan Children's Hospital from January 2021 to October 2023. The classic KD protocol was applied, and seizure frequency and adverse reactions were monitored at 1, 3, and 6 months post-treatment. Results Among the 34 patients, intention-to-treat (ITT) analysis revealed seizure-free rates of 11.8%, 17.6%, and 14.7% at 1, 3, and 6 months KDT, respectively. Seizure control response rates were 41.2%, 52.9%, and 38.2%. Proximal protocol (PP) analysis showed the KDT treatment achieved seizure-free rates of 11.8%, 25%, and 5% at 1, 3, and 6 months, respectively, with seizure control efficacy rates of 41.2%, 75%, and 86.7%. Subgroup analysis: Among 34 patients, 16 had epilepsy syndrome (ES) and 18 had myoclonic epilepsies (MEs). Comparing efficacy rates, the ES group showed significantly higher efficacy than the MEs group at 1 month (P=0.045), with no significant differences observed at 3 or 6 months. Adverse reactions occurred in some patients: 6 developed gastrointestinal adverse events, 2 experienced somnolence, and 2 had urinary system adverse reactions during KD treatment. Conclusion KD treatment is an effective treatment for RE with predominant myoclonic seizures. Short-term application demonstrates good safety, but adherence issues require attention.