高血压性脑出血血肿清除术后癫痫发作的影响因素分析

目的 探讨高血压性脑出血颅内血肿清除术后并发癫痫发作的影响因素。方法 回顾性分析2011年3月至2018年7月开颅血肿清除术治疗的485例高血压性脑出血的临床资料。采用多因素logistic回归分析检验术后并发癫痫的危险因素。结果 485例中,术后发生癫痫62例（12.9%）。多因素logistic回归分析结果显示,血肿体积≥60 ml、血肿位于小脑、术后再出血、术后电解质紊乱、脑电图异常、术前C反应蛋白（CRP）水平升高、术前肿瘤坏死因子-α（TNF-α）水平升高、术前白细胞介素-6（IL-6）水平升高是术后并发癫痫发作的独立危险因素（P<0.05）。结论 高血压性脑出血开颅血肿清除术后癫痫发作发生率较高,对于血肿较大、血肿位于小脑、术后再出血、术后电解质紊乱、脑电图异常、术前CRP、TNF-α、IL-6水平升高的病人,应采取针对性措施预防术后癫痫发作。     

Hemifacial seizures due to ganglioglioma of cerebellum

We present a male infant with hemifacial seizures refractory to antiepileptic medication. Hemifacial spasms around the left eye were frequent during wakefulness and sleep since birth. He also had mild psychomotor retardation. Magnetic resonance imaging (MRI) revealed a large tumor in the left middle cerebellar peduncle. Ictal single photon emission computed tomography (SPECT) and ictal ¹⁸F-fluorodeoxyglucose [¹⁸F-FDG] positron emission tomography (PET) revealed hyperperfusion and hyper glucose metabolism at the tumor. Total removal of the tumor resulted in complete disappearance of hemifacial seizures and improved psychomotor development, indicating that the cerebellar tumor caused hemifacial seizures. A histopathological study confirmed that the tumor was a ganglioglioma. This case and the literature on similar cases indicated that this was a new epileptic syndrome originating in the cerebellum. Early diagnosis and early complete removal of the epileptogenic lesion should be recommended for this syndrome.     

Epilepsy in vacuolating megalencephalic leukoencephalopathy with subcortical cysts.

Vacuolating megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a disorder characterised by acquired macrocephaly, developmental motor delay of varying degrees, slowly progressive cerebellar and pyramidal signs, and initially preserved intellectual function. More than 60% of the published cases had epileptic seizures. In this study, we analysed the seizures and EEG findings of nine patients with MLC. Six patients (66.6%) with moderate to severe neurological impairment had epilepsy, four with partial and two with generalised seizures. The EEG of five epileptic patients revealed epileptogenic foci over the temporal, frontal and parietal regions with variable predominance during waking and sleep. The facilitation of spike-and-wave paroxysms by eye closure, by intermittent photic stimulation and by hyperventilation were determined in four patients. Four patients also showed abnormalities in the background activity. In conclusion, we think that epilepsy is a significant component of MLC compared to the other leukodystrophies. The elucidation of the underlying molecular defect may explain the unusual pathogenetic relation between this leukoencephalopathy and the associated seizures.     

TUBA1A mutation-associated lissencephaly: case report and review of the literature

Lissencephaly is a disorder of neuronal migration resulting in abnormal cerebral cortical sulcation and gyration. Affected children present with microcephaly, developmental delay, and early-onset epileptic seizures. Recently, de novo missense mutations in the tubulin α-1A (TUBA1A) gene were identified as causing a distinctive radiologic phenotype comprising of posteriorly predominant lissencephaly with dysgenetic corpus callosum, cerebellar and brainstem hypoplasia, and more recently, polymicrogyria. We describe a 14-month-old girl with TUBA1A mutation-associated lissencephaly, and summarize the clinical and neuroradiologic findings of 19 cases in the literature.     

Editorial ‘Supplement DIZZYNET 2017’

Classical teaching in epileptology localizes the origins of focal seizures solely in the cerebral cortex, with only inhibitory effects attributed to subcortical structures. However, electrophysiological and neuroimaging studies over the last decades now provide evidence for an initiation of epileptic seizures within subcortical structures. Intrinsic epileptogenicity of hypothalamic hamartoma has already been established in recognition of subcortical epilepsy, whereas a seizure-generating impact of dysplastic cerebellar lesions remains to be clarified. Herein, we examine the supportive evidence and clinical presentation of cerebellar seizures and review therapy options.     

An Autopsied Case of Dentatorubropallidoluysian Atrophy with Atypical Pathological Features

Abstract: This is a report of an autopsied case of dentatorubropallidoluysian atrophy (DRPLA) with atypical neuropathological Andings. The patients was a 31-year-old female. Her clinical symptoms were epileptic seizures, cerebellar ataxia, choreoathetosis and dementia. A neuropathological examination revealed the Abrillary gliosis in various areas of the CNS and severe degeneration in the cerebellar cortex and nucleus fwiculi dorsalis in addition to a marked degeneration of the dentatorubropallidoluysian systems. The present case is diagnosed neuropathologically as DRPLA associated with the flndings of chronic diphenylhydantoin intoxication and epileptic brain damage.     

Antiepileptic Properties of Cerebrospinal Fluid After Activation of the Antiepileptic System of the Brain

Intraventricular injection of cerebrospinal fluid (CSF) obtained from cats with chronic electrical stimulation of cerebellar vermal cortex resulted in suppression of epileptic foci activity in cat brain cortex, an increase in time to first seizure, and weakening of generalized seizures in rats. The CSF obtained from cats after electroshock seizures induced less pronounced, although significant antiepileptic action in comparison with the CSF of cats with cerebellar stimulation on the model of generalized seizures in rats. The antiepileptic action of CSF obtained from cats with electrostimulation of cerebellar vermis and from electroshock cats is due to appearance of peptide factors in CSF.     

Epileptic Seizure as a Presenting Symptom of Cerebrotendinous Xanthomatosis

Cerebrotendinous xanthomatosis (CTX) is a rare hereditary disease characterized by xanthomata of tendons, osteoporosis, cataracts, cerebellar ataxia, spastic paresis, and dementia. Though electroencephalographic (EEG) abnormalities are frequent in CTX, epileptic seizures have not been recognized as a major feature. A CTX patient is reported who presented with a generalized epileptic seizure and was evaluated with EEG and neuropsychological testing. Epilepsy should be considered a feature of CTX, and CTX considered as a possible, though rare, cause of symptomatic seizures.     

Epileptic spasms secondary to acute cerebral and cerebellar encephalitis

Background

Patients with infection-related acute encephalitis sometimes develop epilepsy in the chronic phase of the disease. Patients with postencephalitic epilepsy usually develop partial seizures due to the lesions generated by the encephalitis. We report a case who developed late-onset epileptic spasms after acute cerebral and cerebellar encephalitis.Case report: A 5-year-old girl showed severe tremor, gait ataxia, partial or generalized tonic-clonic seizures, hyperactivity, and panic attacks after a mild enterocolitis. Her cerebellar symptoms disappeared until 3?months after onset, and her seizures were controlled with carbamazepine. However, the seizures reappeared as epileptic spasms 5?months after onset. The anti-NMDA-type glutamate receptor antibody concentration was significantly elevated in her cerebrospinal fluid at 8?days, 10?months, and 15?months after onset. The spasms were resistant to multiple antiepileptic drugs. High-dose methylprednisolone and high-dose immunoglobulin therapies did not show any benefits. Oral pranlukast hydrate was started 17?months after onset. After 3?weeks of the medication, her seizures disappeared, and her behavior also dramatically improved.

GABA levels in cerebrospinal fluid of patients with epilepsy

The lumbar cerebrospinal fluid (CSF) gamma-aminobutyric acid (GABA) levels were measured in 27 patients with epilepsy, another three epileptic patients with status epilepticus and three epileptic patients with chronic cerebellar ataxia. The mean lumbar CSF GABA levels of the 27 patients with epilepsy were not significantly different from those of normal controls. Six of these 27 patients who had daily partial complex and partial motor seizures showed significantly low CSF GABA levels as did the six other patients, three each with status epilepticus and chronic cerebellar ataxia. These findings suggest that some epileptic patients have impaired brain GABAergic neurons.     

GABA Levels in Cerebrospinal Fluid of Patients with Epilepsy

Abstract: The lumbar cerebrospinal fluid (CSF) γ-aminobutyric acid (GABA) levels were measured in 27 patients with epilepsy, another three epileptic patients with status epilepticus and three epileptic patients with chronic cerebellar ataxia. The mean lumbar CSF GABA levels of the 27 patients with epilepsy were not significantly different from those of normal controls. Six of these 27 patients who had daily partial complex and partial motor seizures showed significantly low CSF GABA levels as did the six other patients, three each with status epilepticus and chronic cerebellar ataxia. These findings suggest that some epileptic patients have impaired brain GABAergic neurons.     

Outcomes of epileptic spasms in patients aged less than 3 years: single-center United States experience

Retrospective review was performed of children aged <3 years with epileptic spasms at our center from 2004-2010. Short-term (<6 months) and long-term (≥6 months) outcomes were assessed. We included 173 children (104 boys; median age of onset, 6.8 months) with epileptic spasms of known (62%) and unknown (38%) etiology. Treatments included adrenocorticotropic hormone (n = 103), vigabatrin (n = 82), phenobarbital (n = 34), and other agents (n = 121). Short-term treatment with adrenocorticotropic hormone and vigabatrin provided better epileptic spasm control in groups with known and unknown etiology than other agents. At follow-up (6-27 months), 54% of children manifested seizures, and 83% manifested developmental delay. Known etiology was a predictor of poor developmental outcome (P = 0.006), whereas bilateral/diffuse brain lesions predicted both poor development and seizures (P = 0.001 and 0.005, respectively). Initial presentations of epileptic spasms with hypotonia or developmental delay most strongly predicted both seizures and neurodevelopmental outcomes (P < 0.001). In a child presenting with epileptic spasms with developmental delay or hypotonia, no specific treatment may offer superior benefit.     

Estimation of Epileptic Foci Using the Dipole Tracing Method in Epileptic Seizures with Structural Lesions of the Brain

We estimated the position of the epileptic focus using the dipole tracing method (DTM) in three patients with epileptic seizures and structural lesions, and made comparisons between the foci and their lesions. Patient 1 had a large arachnoid cyst in the right temporal lobe, patient 2 had a tumor in the right hippocampus, and patient 3 had a tumor in the right amygdala. In patient 1, the epileptic focus was estimated to lie in the lateral portion of the right temporal lobe just outside the cyst; in patient 2, in the right hippocampus just under the tumor; and in patient 3, one in the right hippocampus just behind the tumor, another in the right superior temporal gyrus (rSTG). Except for the focus of patient 3 on rSTG, the epileptic foci in all three patients were estimated to lie near the lesions. These estimations correlated with past reports that most foci of seizures caused by brain lesions were located near the lesions. The results of ECoGs in patient 3 were in close correlation with those of DTM. Therefore, we conclude that DTM is a highly accurate method in the estimation of the foci in patients with brain lesions associated with epileptic seizures.     

Aromatic L-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements

Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare inborn error of neurotransmitter biosynthesis that leads to a combined deficiency of catecholamines and serotonin and is characterized by global developmental delay, involuntary movements, and autonomic dysfunction. We report the case of an 11-year-old male patient with AADC deficiency who also had epileptic spasms and generalized tonic seizures with asymmetrical features, in addition to frequent involuntary non-epileptic movements. The clinical manifestation of the epileptic attacks apparently resembled that of non-epileptic attacks. It was difficult to differentiate between both attacks without the help of an ictal electroencephalographic study. The epileptic attacks were finally controlled by appropriate antiepileptic drugs. Because an association with epileptic seizures is uncommon in AADC deficiency, some cases may have been regarded as involuntary non-epileptic movements. This indicates that the differentiation of epileptic attacks from non-epileptic ones is indispensable for the adequate treatment of patients with AADC deficiency.     

Stress and corticosteroid modulation of seizures and synaptic inhibition in the hippocampus

The role of stress hormones in the initiation of epileptic seizures has been studied extensively in the past decade, with conflicting observations, from suppression to exacerbation of spontaneous seizures. We have now studied the effects of an acute stress on reactivity of juvenile rats to kainic acid (KA), which produces epileptic seizures. With a short (30s) stress-KA delay, stress exacerbated epilepsy via activation of mineralocorticosterone receptors (MR). With a long (60 min) stress-KA delay, seizures were suppressed through activation of a glucocorticosterone receptor (GR). In a parallel study with CA1 pyramidal neurons in acute hippocampal slices, activation of MRs reduced the frequency of mIPSCs, whereas activation of GRs produced a slow onset, 2.5 fold increase in amplitudes of mIPSCs. GR effects were not mediated by protein synthesis, but did require activation of some protein kinases. These experiments suggest that stress can either facilitate or suppress seizures, in a time and receptor dependent manner.     

Brain function in epilepsy: midbrain, medullary, and cerebellar interaction with the rostral forebrain.

Against the background previous findings in epileptic patients, in whom electroencephalographic recordings were obtained from numerous deep and surface brain sites during seizures, rhesus monkeys with electrodes implanted into specific brain sites were used to demonstrate anatomical connections by evoked potential techniques and to serve as models of experimental epilepsy. In the animals, many monosynaptic connections were revealed between forebrain sites consistently involved in seizures in patients and more caudal brain sites subserving functions of sensory perception, eye movement, synaptic chemical transmission, and motor coordination. Further, the participation of these interrelated sites during seizures was demonstrated. The findings provide an anatomical-physiological explanation for many of the clinical phenomena observed in epileptic patients and a rationale for the use of cerebellar stimulation as a treatment.     

Cerebral damage in epilepsy: a population-based longitudinal quantitative MRI study

PURPOSE: Whether cerebral damage results from epileptic seizures remains a contentious issue. We report on the first longitudinal community-based quantitative magnetic resonance imaging (MRI) study to investigate the effect of seizures on the hippocampus, cerebellum, and neocortex. METHODS: One hundred seventy-nine patients with epilepsy (66 temporal lobe epilepsy, 51 extratemporal partial epilepsy, and 62 generalized epilepsy) and 90 control subjects underwent two MRI brain scans 3.5 years apart. Automated and manual measurement techniques identified changes in global and regional brain volumes and hippocampal T2 relaxation times. RESULTS: Baseline hippocampal volumes were significantly reduced in patients with temporal lobe epilepsy and could be attributed to an antecedent neurologic insult. Rates of hippocampal, cerebral, and cerebellar atrophy were not syndrome specific and were similar in control and patient groups. Global and regional brain atrophy was determined primarily by age. A prior neurologic insult was associated with reduced hippocampal and cerebellar volumes and an increased rate of cerebellar atrophy. Significant atrophy of the hippocampus, neocortex, or cerebellum occurred in 17% of patients compared with 6.7% of control subjects. Patients with and without significant volume reduction were comparable in terms of seizure frequency, antiepileptic drug (AED) use, and epilepsy duration, with no identifiable risk factors for the development of atrophy. CONCLUSIONS: Overt structural cerebral damage is not an inevitable consequence of epileptic seizures. In general, brain volume reduction in epilepsy is the cumulative effect of an initial precipitating injury and age-related cerebral atrophy. Significant atrophy developed in individual patients, particularly those with temporal lobe and generalized epilepsy. Longer periods of observation may detect more subtle effects of seizures.     

Hydrocephalus and epileptic seizures

Is there an association between shunted hydrocephalus and the development of epileptic seizures? To answer this question a retrospective review of the medical records of 197 patients with shunted hydrocephalus was undertaken. In this series 17% of patients with hydrocephalus developed seizures. No correlation was found between the occurrence of epileptic seizures and a shunt malfunction, the number of shunts placed, the age of the patient at the initial shunt procedure or the location of the shunt. Patients with hydrocephalus who had significant cognitive delay or significant motor disability were significantly more likely to develop seizures than patients who did not. The findings of this review support the hypothesis that the occurrence of seizures in children with hydrocephalus is related to an underlying diffuse encephalopathy and not to the hydrocephalus or to procedures related to the treatment of this disorder.     

Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy

Hypothalamic hamartomas and gelastic seizures are often associated with cognitive deterioration, behavioral problems, and poor response to anticonvulsant treatment or cortical resections. The origin and pathophysiology of the epileptic attacks are obscure. We investigated 3 patients with this syndrome and frequent gelastic seizures. Ictal single-photon emission computed tomography performed during typical gelastic seizures demonstrated hyperperfusion in the hamartomas, hypothalamic region, and thalamus without cortical or cerebellar hyperperfusion. Electroencephalographic recordings with depth electrodes implanted in the hamartoma demonstrated focal seizure origin from the hamartoma in 1 patient. Electrical stimulation studies reproduced the typical gelastic events. Stereotactic radiofrequency lesioning of the hamartoma resulted in seizure resulted in seizure remission without complications 20 months after surgery. The functional imaging findings, electrophysiological data, and results of radiofrequency surgery indicate that epileptic seizures in this syndrome originate and propagate from the hypothalamic hamartoma and adjacent structures.     

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation

WDR45 mutations cause neurodegeneration with brain iron accumulation, usually presenting with early childhood developmental delay and followed by early adulthood extrapyramidal symptoms. Although various seizure types may occur, epileptic spasms have not been reported for this disease. Our patient initially developed a prolonged, focal‐onset seizure at three months of age and was subsequently noted to have psychomotor delay. At 11 months of age, she developed epileptic spasms. Her EEG showed hypsarrhythmia. An extensive neurogenetic workup and brain MRI, revealing normal data, ruled out other detectable causes of epileptic spasms. Whole‐exome sequencing revealed a de novo, heterozygous deleterious mutation c.400C>T (p.R13X) in WDR45, previously reported to be disease‐causing and associated with early childhood global developmental delay and seizures other than epileptic spasms. We conclude that WDR45 mutations should be considered as a possible aetiology in infants with early‐onset focal seizures and/or in otherwise undiagnosed cases of epileptic spasms.