ObjectiveTo study the clinical and EEG features, therapeutic response and prognosis of eyelid myoclonia-nonconvulsive status epilepticus (EM-NCSE) in children.MethodsCollected the clinical and EEG data of 3 children with EM-NCSE that were diagnosed in department of neurology in Qilu Children Hospital of Shandong university during the January in 2015 to August in 2016.Analysed the therapeutic response to antiepletic drugs(AEDs).ResultsAmong the three children, there were 2 girls and 1 boy.The age at the onset of the disease was from 6 to 10 years old.The average age of them is 8.67 years old.The clinical manifestations include mental confusion, dysphoria, winking and scrolling up the eyes.The typical vedio electroencephalography (VEEG) in the patients showed 3~6 Hz generalized spike and waves and polyspikes burst, especially in the frontal and the anterior temporal region.In addition, the eye closure and intermittent photic stimulation helped to induce discharges and clinical events as eyelid myoclonia (EM).ConclusionsEM-NCSE is one of the idiopathic and generalized epileptic disease and characterized by EM.Video EEG monitoring plays an important role in the diagnosis of this disease.The drugs of choice for treatment was diazepam.When the event was controlled, AEDs were effective for the following therapy.
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.
ObjectiveAicardi and Goutières syndrome was first reported as a rare hereditary encephalopathy with white matter involvement in 1984. Typical clinical manifestations include severe mental motor development retardation or regression, pyramidal and extrapyramidal symptoms and signs, epilepsy, microcephaly and frostbite.MethodsTo collect a case of patient who presented with convulsions 14 days after birth without obvious inducement. The child was diagnosed as epilepsy in the local hospital and the symptoms improved after treatment with antiepileptic drugs. At 4 months, the child presented nods and clenched fists, and was diagnosed as infantile spasm. After Adrenocorticotrophic hormone and drug treatment, the symptoms gradually improved. Due to upper respiratory track infection, the child was aggravated at the age of 1 year and 2 months, and then diagnosed as Aicardi-Goutières syndrome by video EEG, skull MRI, fundus and gene screening.ResultsSurgery and treatment with antiepileptic drugs significantly improved the symptoms of the child, and the pathological biopsy of the brain tissue supported the previous diagnosis.ConclusionsThe report of this case will help to improve the clinician's diagnosis and treatment of Aicardi-Goutières syndrome.
ObjectiveTo investigate the efficacy and safety of Stereotactic electroencephalogram (SEEG)-guided Radiofrequency-thermocoagulation (RF-TC) in the treatment of refractory insular epilepsy in children.MethodsThe clinical data of 7 children with SEEG-confirmed insular epilepsy admitted to the Epilepsy Center of the Children’s Hospital Affiliated to Shandong University from January 2021 to May 2022, were retrospectively analyzed (3 males and 4 females; average age, 6.6±3.5 years). All patients underwent stage I pre-operative evaluation, and were implanted with SEEG electrodes for video EEG monitoring. The radiofrequency thermocoagulation contacts were determined according to SEEG and imaging results, and radiofrequency thermocoagulation was performed via electrode contacts. The patients were followed up at 3, 6, 12 and 18 months after operation by outpatient review or via telephone interview. The clinical efficacy was evaluated by Engel classification and complications were recorded. ResultsSix cases (6/7) were characterized by nocturnal seizures, and four cases (4/7) exhibited hypermotor or complex motor seizures. Three cases (3/7) showed focal ankylosis; only 1 patient had aura. All of the 7 cases showed interictal scalp EEG consistent with the side of surgery: 6 cases showed distribution in the perilateral fissure region, and 1 case showed confinement to the temporal region. In MRI, 4 cases showed negative signal, 2 cases showed unclear gray-white matter boundary, and 1 case showed thickening of the insular cortex. All of the 7 patients received electrode implantation and completed follow-up for over 6 months [6.0~22.0 (12.3±5.3) months]. At the last follow-up, 5 of the 7 children were seizure free (Engel class la), and 2 still had seizures after surgery, with no postoperative long-term complications.ConclusionChildren with insular epilepsy rarely show an aura, but have prominent motor symptoms, and the scalp electroencephalogram is mainly distributed in the perilateral fissured area. SEEG-guided RF-TC has good safety and efficacy in the treatment of drug‐resistant insular epilepsy.