ObjectiveTo study the clinical characteristics of patients onset epilepsy Dentatorubral-pallidoluysian atropy (DRPLA) in Epilepsy Center of Guangdong 999 Brain Hospital and improve understanding of the disease. MethodsCollected five patients from August 2014 to August 2016 in Guangdong 999 Brain Hospital, whom diagnosed through genetic testing of DRPLA, analysed their disease course, family history, video-EEG, brain MRI and treatment data. ResultsDRPLA performed as neurodegenerative diseases, and epilepsy population mainly performed as progressive myoclonic epilepsy (Progressive myoclonus epilepsy, PME). ConclusionDRPLA is autosomal dominant neurodegenerative disease. In patients with cerebellar atrophy, neurological regression, ataxia, drug refractory epilepsy, it is recommended routinely to detect ATN1 gene, so that timely diagnosis and genetic counseling.
ObjectiveTo analyse the seizure semeiology of MRI negative insular epilepsy.MethodsA case of patient with insular epilepsy who presented in Epileptic Center, Guangdong 999 Brain Hospital was collected. Related literatures were thoroughly reviewed.ResultsThe patient was diagnosised as insular epilepsy by SEEG and postoperative pathology reported focal cortical dysplasia Ib.ConclusionsThe insula lobe is a part of the limbic system, and the seizure semeiology in insular epilepsy is varied. Seizure semeiology analysis is particularly important in the evaluation of presurgical especially in a MRI negative case. In this paper, we summarized the semeiology characteristics of various parts of insula lobe, and provided some references for the diagnosis and treatment of insular epilepsy.
ObjectiveTo clarify the characteristic of secondary cerebral amyloidoma which is relapsing in one year after seven years gamma knife radiosurgery and review relevant literature.MethodsTo analyze the clinical manifestation, preoperative and postoperative MRI imaging, inter-ictal and ictal electroencephalogram (EEG) and histopathological evaluation.ResultsThe patient suffered from epilepsy (mainly autonomic seizure and global tonic-clonic seizure) at the age of 22 and took a gamma knife radiosurgery for right medial temporal epilepsy as the refractory seizures occurred at the age of 36. In her 43 and 44 years’ old, she suddenly found left hemiplegia and mental retardation, the MRI showed right frontal and parietal space-occupying lesion and relapsed after the partial excision respectively, the inter-ictal and ictal EEG displayed persistent slow wave in the right hemisphere and spike wave located in the right posterior temporal and central-parietal, after the surgery, we found amyloid in the histopathological evaluation.ConclusionOne of the delayed complications of gamma knife radiosurgery is secondary cerebral amyloidoma, and partial excision may induced relapsing easily.
Objective To research clinical manifestations, electrophysiological characteristics of epileptic seizures arising from diagonal sulci (DS), to improve the level of the diagnosis and treatment of frontal epilepsy. MethodsWe reviewed all the patients underwent a detailed presurgical evaluation, including 5 patients with seizures to be proved originating from diagonal sulci by Stereo-electroencephalography (SEEG). All the 5 patients with detailed medical history, head Magnetic resonance (MRI), the Positron emission computered tomography (PET-CT) and psychological evaluation, habitual seizures were recorded by Video-electroencephalography (VEEG) and SEEG, we review the intermittent VEEG and ictal VEEG, analyzing the symptoms of seizures. Results 5 patients were divided into 2 groups by SEEG, group 1 including 3 patients with seizures arising from the bottom of DS, group 2 including 2 patients with seizures arising from the surface of DS, all the tow groups with seizures characterized by both having tonic and complex motors, tonic seizures were prominent in seizures from left DS, and tonic seizures may absent in seizures from right DS. Intermittent discharges with group1 were diffused, and intermittent discharges with group 2 were focal, but both brain areas of frontal and temporal were infected. Ictal EEG findings were consistent with the characteristics of neocortical seizures, the onset EEG shows voltage attenuation, seizures from bottom of DS with diffused EEG onset, and seizures from surface of DS with more focal EEG onset, but both frontal and anterior temporal regions were involved. Conclusionthe symptom of seizures arising from DS characterized by tonic and complex motor, can be divided into seizures arising from the bottom of DS and seizures from the surface of DS, with different electrophysiological characters.
ObjectiveThe study aimed to investigate the clinical characteristics of epilepsy patients with DEPDC5 mutation, and to improve the understanding of familial hereditary focal epilepsy.MethodsThree families with familial hereditary focal epilepsy were enrolled in this study from September 2014 to September 2017 at the Sanjiu Brain Hospital of Guangdong Province. Epilepsy-related gene in peripheral blood was detected by the second generation sequencing. The medical history, family history, magnetic resonance imaging, electroencephalo-groph, treatment programs and other data were collected and aralyzed.ResultsThere were 8 patients in the three families, seizures of whom originate mostly from the frontal or temporal lobe. Cognitive function and other system function was basically normal fron patients treated with antiepilepsy drugs.ConclusionsThe mutations of DEPDC5 gene are common in familial hereditary focal epilepsy, which leads to the main clinical symptom of complex partial seizure. Antiepilepsy drug therapy is effective to most patients. However, to those drug resistant patients, prognosis can improved by surgical treatment.
ObjectiveWe report a special case to explain seizure semiology and epileptogenic network of seizure arising from ventral motor cortex, and to explore Focal cortical dycplasia (FCD) features on MR of epileptic patients with DEPDC5 mutation.MethodsA drug-resistant focal epilepsy patient with DEPDC5 mutation was underwent a detailed presurgical evaluation. The epileptogenic area(EA) was localized with SEEG and removed later by surgery. Related literatures were thoroughly reviewed.ResultsSubtle FCD of ventral branch of inferior precentral sulcus(IPv) on MR(1.5T) was noticed. With SEEG recording, seizure onset zone was detected on IPv with the probable lesion, early spreading to anterior insula, central operculum and ventral precentral gyrus. According to the architectures of ventral motor trend, seizure semiology with evolution from contralateral dystonia to ipsilateral chorea movement could be better comprehended. Seizure was controlled after totally resection on the sites of IPv, anterior insula, and central operculum. Pathological change was FCD type I. Other literatures reported that DEPDC5 mutation related FCD may be located in motor system, and seizure onset could also be in anterior insula cortex besides motor cortex in other SEEG cases.ConclusionsEarly contralateral dystonia and chorea movement could be definite figures of seizure arising from inferior precentral sulcus; DEPDC5 mutation maybe a clue to find subtle FCD in motor cortex.
ObjectiveTo explore the effect of Ketogenic diet (KD) in patients with Dravet syndrome (DS).MethodsThe seizures, electroencephalogram (EEG) and cognitive function of 26 DS patients receiving treatment of KD from June 2015 to October 2019 in the Epilepsy Centre of Guangdong 999 Brain Hospital were analyzed retrospectively. Modified Johns Hopkins protocol was used to initiate KD, blood glucose and urinary ketone bodies were monitored in the patients. The effect was evaluated by Engel outcome scale. And the EEG, cognition, language and motor function of the patients were assessed.Results26 DS patients (20 boys, 6 girls) received treatment of KD more than 4 weeks, the seizure of epilepsy were reduced above 50% in 15 patients (57.7%), 2 patients were seizure free. Among them, the effcet of KD can be observed in 7 patients within one week and 3 patients within two weeks, accounting for 66.7% (10/15). 26 cases (100%), 24 cases (92.3%), 20 cases (76.9%), 11 cases (42.3%) were reserved in 4, 12, 24, 28 weeks respectively. 26 patients achieved Engel Ⅰ ,Ⅱ,Ⅲ,Ⅳgrade effect, accounting for 38.5% (10/25), 54.2% (13/23), 65.0% (12/19), 81.8% (9/11) respectively according to Engel scale. The back ground rhythm of EEG showed obvious improvement in 14 patients wthin 16 patients who revieved EEG after KD. 17 patients assessed cognitive, language and motor function after KD, cognitive function was improved in 10 patients, language was enhanced in 11 patients, motor function of 8 patients was enhanced. The main adverse reactions of KD in the treatment process were mainly gastrointestinal symptoms and metabolic disorders.ConclusionKD treatment in DS has many advantages, such as fast acting, being effective in more than half of the DS patients and tolerable adverse reactions. Cognitive, language and motor function were improved in some patients. Drug resistant DS patients are suggested to receive KD treatment early.
ObjectivesPost-encephalitic epilepsy could be of great chance of pharmaco-resistant, even surgery may not achieve seizure free. The aim of this study is to mapping epileptogenic area of pharmaco-resistant post-encephalitic temporal lobe epilepsy, to find whether "temporal plus" epilepsy is the main type and its surgery outcome, based on stereo-EEG(SEEG) study.MethodWe retrospectively studied 15 patients with pharmaco-resistant temporal lobe epilepsy. Scalp EEG, seizure semiology, MRI, FDG-PET, and SEEG were reviewed for all patients. According to epileptogenic area which was analysed by SEEG, 15 patients were divided into 2 groups, temporal lobe epilepsy(TLE) group and temporal plus epilepsy(TPE) group. Clinical characteristics were compared with each group, by t-test or Fisher exact test when data needed.ResultsThere were 8 patients in TLE group, with 6 mesial TLE, 1 lateral TLE, 1 mesial-lateral TLE. And 7 patients in TPE group. Age of seizure onset (P=0.548), duration of epilepsy (P=0.099), age of remote encephalitis (P=0.385), type of semiology (P=0.315) and lateralization of MR lesions (P=1.000), interictal FDG-PET hypometabalism (P=1.000) or intracranial implantation (P=0.619) were of no statistically difference between TLE group and TPE group. Surgery was performed in all patients. Better outcome was obtained in TLE group(5/8 class Ⅰ), and poor was in TPE group(3/7class Ⅰ).ConclusionMesial-TLE and temporal plus epilepsy were common types of pharmaco-resistant post-encephalitic TLE. There was no way to differentiate clinically, except by SEEG. Mesial-TLE had a better outcome after surgery, but temporal plus epilepsy did not.
ObjectiveTo improve the knowledge of a rare disease named pyridoxine-dependent epilepsy.MethodsHigh-throughput sequencing and Sanger sequencing were used to validate the genes of epilepsy. Mutation gene validation was performed on two probands and their parents. Analyze clinical manifestations, electroencephalogram (EEG), imaging and prognostic features of the two probands.ResultsProbands 1, seizure onset at 4 months, progress as drug-refractory epilepsy, manifested as seizures types origin of multi-focal lesions. Head MRI and fluorodeoxyglucose-positron-based tomography (FDG-PET) were both normal. Gene detection showed that Aldehydedehydrogenase (ALDH7A1) gene has a complex heterozygous mutation contain c.1442G> and c.1046C> T.Proband 2, seizure onset at 5 months, manifested as a tonic-clonic seizure. Intermittent EEG and head MRI were both normal. Genotyping revealed ALDH7A1 gene contain a complex heterozygous mutation c.1547A> G and c.965C> T. Two cases were both seizure free by vitamin B6 therapy and gradually reduce the antiepileptic drugs.ConclusionsPyridoxine-dependent epilepsy may be late onset, some patient can be atypical and early experimental treatment can help to identify and the diagnosis should be confirmed by gene test.