Reflex Seizures are Frequent in Patients with Down Syndrome and Epilepsy

In a retrospective study of 30 Down syndrome (DS) patients with epilepsy, we found 6 cases (20%) with reflex seizures. One patient had benign myoclonic epilepsy of infancy with clinical photosensitivity. The other 5 cases had all startle-induced epileptic seizures and a form of symptomatic epilepsy. Three patients had a Lenox-Gastaut syndrome, one had generalized symptomatic epilepsy, and one had partial symptomatic epilepsy (PSE). Reflex epilepsy was also used as a classification category in the PSE case, as most or all seizures were stimulus-related in this patient. Seizures precipitated by stimuli were stereotyped in 4 patients, but 2 patients responded to stimuli with different types of seizures. The actual occurrence of reflex seizures in DS patients with epilepsy is probably underestimated. These cases seem to confirm previous reports showing deficiencies in cortical inhibition in the brain of DS patients.     

Seizure Risk in Offspring of Parents with Generalized Versus Partial Epilepsy

Genetic factors are commonly assumed to play a more important role in generalized than in partial epilepsy. This study tested this hypothesis by comparing risks of unprovoked seizures in offspring of individuals with generalized versus partial epilepsy. Overall, seizure incidence was no higher in offspring of persons with generalized epilepsy than in offspring of those with partial epilepsy. The number of affected offspring was about three times that expected from population incidence rates, regardless of whether the parent had partial or generalized epilepsy. For the subgroup of generalized cases with absence seizures, however, seizure incidence in offspring was about three times as high as for partial cases. The higher incidence in offspring of absence cases was only partly explained by a higher proportion of absence than partial cases with two factors associated with high risk in relatives, namely early age at onset and idiopathic epilepsy. Offspring of absence cases had higher risk than offspring of other cases not only for absence seizures, but for other seizure types as well, suggesting that absence epilepsy is not genetically distinct from other seizure types of epilepsy. These results suggest that the higher incidence sometimes observed in relatives of patients with generalized epilepsy is due to a small proportion of generalized cases with extremely high familial risks--most generalized epilepsies are no more likely than partial epilepsies to have a genetic basis.     

有癫痫发作的脑型血吸虫病的头颅CT检查和临床表现

目的评价头颅ＣＴ对有癫痫发作的脑型血吸虫病的诊断价值。方法选择５４例有癫痫发作并经临床确诊的脑型血吸虫病，其中大发作２６例，局限运动型癫痫２６例，颞叶癫痫２例。全部病例行头颅ＣＴ检查，并与他们的临床表现、分型、治疗和预后进行比较。结果头颅ＣＴ异常４４例，异常ＣＴ随本病分型不同而有差异。结论头颅ＣＴ检查不但有助于脑型血吸虫病致癫痫病人的诊断，而且对本病的鉴别诊断、分型和指导治疗亦有参考价值。     

Prevalence and Prognosis of Epilepsy in Patients with Multiple Sclerosis

An analysis of 599 clinically definite multiple sclerosis (MS) patients including all known cases of the southern province of Finland in January 1, 1979 revealed epileptic seizures in 21 (3.5%) patients. On that date, 12 patients needed treatment (2.0%). The age-adjusted prevalence of active epilepsy was significantly higher than that in the general population. The percentage of partial seizures (67%) was significantly increased in proportion to a series of 100 adult epilepsy patients, with a comparable age distribution. In 10 patients (including three patients with symptomatic epilepsy), the attacks appeared before the MS symptoms. The mean follow-up after the first seizures was 19.3 years. In 10 patients, the seizures disappeared totally during the surveillance until September 1985. Our results show an increased comorbidity between MS and epilepsy. In most cases, however, the prognosis of epilepsy was good and there seemed not to be any clear correlation between the severity of MS and epilepsy.     

Hair loss with levetiracetam in five patients with epilepsy

PurposeTo report cases of hair loss with levetiracetam (LEV) in epilepsy patient and summarise their demographic and clinical features.MethodAll patients reported attended the epilepsy outpatient clinic of the West China Hospital, Sichuan University. Demographic and clinical information was obtained from medical records and by interview. All the patients were under regular follow up.ResultsFive epilepsy patients (4 females and 1 male) are reported. All developed hair loss within two months of starting LEV treatment. Three had idiopathic epilepsy, two symptomatic epilepsy. Three patients received LEV monotherapy, two combination treatment. None decided to switch away from LEV to another drug after developing hair loss, although the dose of LEV was reduced in one patient.ConclusionHair loss may be a rare side effect of LEV treatment in patients with epilepsy. LEV-related hair loss appears reversible if the dose is reduced or treatment is stopped.     

Frequent association of autism spectrum disorder in patients with childhood onset epilepsy

Autism spectrum disorder (ASD) has a close relationship with epilepsy. This study retrospectively examined patients with epilepsy associated with ASD. Among the 519 patients with epilepsy, 79 patients (15.2%) had ASD. Sixty-two patients had idiopathic ASD and 17 had secondary ASD. The epilepsy patients with idiopathic ASD were retrospectively analyzed. There were 47 males and 15 females, ranging from 2 to 43 years of age (median 11 years). The most frequent age at the onset of seizures was 4 years, and 85% occurred before 10. ASD was detected after the onset of epilepsy in 29 cases (46.8%), and eight of them had been overlooked for more than five years. Most of these were high-functioning ASD cases. The most frequent type of seizure was a complex partial seizure (CPS; 68%). Paroxysmal activities on EEG were localized in the frontal area in about half of the cases. Multiple anti-epileptic drugs were used in 33.8% cases (two in 17.7%, three in 16.1%), and 67.3% of the patients were seizure-free for more than two years. An amelioration of the autistic symptoms occurred after epilepsy treatment in five cases (8%).     

Epilepsy associated with infantile hemiparesis: predictors of long-term evolution

To study the evolution of epilepsy associated with infantile hemiparesis (IH) in relation to age and identification of factors predictive of pharmacoresistance. Thirty-four children with epilepsy and associated IH were followed for a period of 13 years and 3 months (range 5-19 years). All the patients underwent clinical evaluation and EEG, CT and/or MRI. Disease course was evaluated from the time of diagnosis of epilepsy to end of follow-up by differentiating the cases with severe pharmacoresistance from those with favourable outcome. Several possible prognostic factors were identified predicting evolution toward intractable epilepsy. Univariate statistical analysis by calculating odds ratio (OR) with 95% confidence interval (CI) and multivariate analysis by logistic regression were performed. Eleven cases presented severe epilepsy evolving toward pharmacoresistance; duration of epilepsy was always longer than 8 years. Twenty-three cases (seven with severe epilepsy and 16 with mild epilepsy) evolved toward remission; in these patients epilepsy duration was shorter (2-7 years) and a complete remission was obtained within 12 years of age. Significant prognostic factors associated with pharmacoresistance included: non-vascular causes, cortical lesions, mixed and frequent seizures during the first two years of epilepsy. Our results show that surgical treatment could be considered in cases with unfavourable prognostis factors.     

Mortality in children with severe epilepsy: 10 years of follow-up

Epilepsy is the main neurological condition in children and adolescents. Unfortunately patients with medical refractory epilepsy are more susceptible for clinical complications and death. We report a prospectively evaluated cohort of children followed for approximately 10 years. Fifty-three of 1012 patients died. Forty-two patients died due to epilepsy or its clinical complications and the main causes of death were pneumonia (in 16 cases), sepsis (in 9 patients), status epilepticus (in 8 patients). In 11 patients cause of death was sudden unexpected death in epilepsy (SUDEP). Mental retardation was significantly more frequent in patients who did not die from SUDEP. SUDEP may be a significant condition associated with mortality in children and adolescents with epilepsy.     

Accidents at work among people with epilepsy. Results of a European prospective cohort study.

Studies on accidents at work in people with epilepsy are scarce and the evidence that epilepsy carries an increased risk of accidents at work is mostly anecdotal. The present survey is a multicentre prospective cohort study of everyday life risks recently conducted in eight European countries (Estonia, Germany, Italy, the Netherlands, Portugal, Russia, Slovenia and United Kingdom) comparing referral children and adults with epilepsy to age- and sex-matched non-epileptic controls. In this context, every accident occurring during work over a 1-3 year follow-up was prospectively reported by patients and controls. Six hundred and thirty-one adult patients with epilepsy and 592 controls from this cohort have been studied here. Each patient and his/her control received a diary to record any accident or illness, with severity, circumstances, causes, consequences (including days off-work) and (for the cases) the possible relation to a seizure. A slightly higher number of unskilled workers were present among patients with epilepsy than in controls. Twenty-two patients with epilepsy and nine controls reported accidents during work (p<0.05). Only two cases reported seizure-related accidents. In both groups the injuries were mild (only one requiring hospitalization) and caused abstention from work to the same extent. In patients with epilepsy, the risk of accidents was unaffected by seizure type and frequency. This study confirms that patients with epilepsy are at higher risk of accidents compared to the general population. However, injuries provoked by work accidents are generally mild and unrelated to seizures.     

颞叶癫痫的核磁共振质子波谱与术后病理对照研究

目的：通过对症状明确的颞叶癫痫病人术前的核磁共振质子波与术后病理进行对照分析,评价核磁共振质子波谱分析对颞叶癫痫的诊断价值。方法：24例症状明确的颞叶癫痫病人,术前均作发作间期脑电图和／或视频脑电监测及MRI、PET检查。根据临床表现,脑电、MRI、PET等检查结果综合评估确定病侧,术前做双侧近中颞叶脑组织的核磁共振质子波谱,术中在脑电监测下切除病灶及致痫灶并送病理检查。结果：本组24例病人有19例单侧或双侧颞叶的NAA／（CR＋CHO）值低于0．6,其中13例为双侧异常,另外6例为单侧异常;双侧均不低于0．6的有5例,均有一侧至少低于对照0．07,可确定为异常,其中2例MRS检查结果与术后病理结果不相吻合。结论：颞叶癫痫病人的地脑组织核磁共振质子波谱检查异常侧与病理改变有较好的对应性,它可以无创性探测活体脑组织代谢功能的异常,MRS不仅可以发现双侧病变,而且可以指出病理改变较严重的一侧,为术前癫痫灶的定位、定侧提供可靠的依据。     

回、汉族癫痫患者血清、脑脊液中P-糖蛋白表达与癫痫耐药的相关性研究

目的 研究回、汉族癫痫患者血清、脑脊液中P-糖蛋白(P-gp)表达与癫痫耐药之间的关系.方法 选取187例符合标准的癫痫患者,其中回族敏感患者28例、回族耐药患者31例;汉族敏感患者59例、汉族耐药患者69例.采用ELISA法测定癫痫患者血清和脑脊液中P-gp浓度.结果 敏感组癫痫患者脑脊液、血清中P-gp浓度,以及二者的比值均低于耐药组,差异存在统计学意义(P＜0.05).回族和汉族癫痫患者脑脊液中P-gp浓度、以及脑脊液与血清中P-gp浓度比值比较,差异无统计学意义(P＞0.05),但是二者血清中P-gp浓度比较,具有统计学差异(P＜0.05).结论 癫痫患者血清和脑脊液中P-gp过表达与癫痫耐药密切相关.     

脑卒中后继发性癫(癎)的临床分析

目的探讨脑卒中后继发性癫癎的临床特点、发病机制、脑电图改变及治疗。方法对46例脑卒中后继发癫癎患者的发病时间、临床表现、治疗方法及脑电图变化进行分析。结果547例脑卒中后继发癫癎46例(8.409%)。早发型明显多于迟发型,起病时间与病变性质无关;癫癎的发生与卒中部位、颅内高压及电解质紊乱有关。脑电图改变以慢波、尖/棘波多见,发作类型以单纯部分性运动发作多见。结论脑卒中累及大脑皮质或脑血液循环障碍或机械牵拉导致神经元异常放电时癫癎易发作,早期预防,可减少卒中患者继发性癫癎发作。     

Refractory chronic epilepsy associated with neuronal auto‐antibodies: could perisylvian semiology be a clue?

Aims. We report a case series of 10 patients with chronic medically refractory antibody‐positive autoimmune epilepsy and assess their common clinical features. Immune‐mediated seizures are most commonly reported in the context of encephalitis or encephalopathy, with few reports focusing on lone, chronic epilepsy in the outpatient setting. Our aim was to define the potential diagnostic clues that might be present in these cases, leading to consideration of an autoimmune cause of the epilepsy. Methods. We performed a retrospective review of all patients presenting to the outpatient department of our unit who underwent autoimmune screening. All patients with chronic epilepsy and a positive result for an antibody known to be associated with epilepsy were included. Results. Sixty‐three patients underwent testing. Thirteen returned a positive result, however, only 10 of these were patients which chronic epilepsy who did not present with an acute illness. Common features in these cases included: perisylvian semiology, EEG abnormalities in the mid temporal region, normal or non‐specific MRI findings, depression, and head injury. Conclusion. In cases of medically refractory, lesion‐negative epilepsy, with predominantly perisylvian semiology, clinicians should have a high level of suspicion for the diagnosis of autoimmune aetiologies and a low threshold to perform autoantibody screening. This is especially true if there are atypical electrographic findings, a previous history of head injury, or co‐morbid depression.     

The clinical spectrum of epilepsy in children and adults with hypothalamic hamartoma

PURPOSE: Hamartomas of the hypothalamus (HH) cause an uncommon and unusual epilepsy syndrome. The condition is recognized to affect children, but the presentation in adults is not well understood. We present 19 children and adult patients with HH, including three patients whose epilepsy began in adult life. The patterns of clinical presentation, evolution of the epilepsy from childhood to adult life, and electroclinical diagnostic features are presented. METHODS: Nineteen patients, both children and adults with HH and epilepsy, were evaluated clinically, with EEG, video-EEG, and magnetic resonance imaging (MRI) scanning. Seven patients underwent surgical resection of the hamartoma. Stereotactic thermocoagulation of the hamartoma was performed in two patients. RESULTS: Gelastic seizures occurred at onset of epilepsy in 15 of 16 early-onset cases. Subsequently, multiple seizures types occurred, which then evolved to mainly partial epilepsy with tonic or complex partial seizures (five of eight adults), or became entrenched symptomatic generalized epilepsy with atypical absences, drop attacks, and secondarily generalized seizures, and cognitive impairment (three of eight adults). In the adult-onset patients, gelastic seizures were not prominent, the epilepsy was milder, and they functioned normally. Stereotactic thermocoagulation of the hamartoma resulted in improvement in seizure control in two patients. CONCLUSIONS: Gelastic seizures are not a prominent feature of epilepsy in adult patients with HH. The epilepsy associated with HH, although severe at onset, can evolve into a milder syndrome in later life. For less severely affected patients, minimally invasive alternatives to the traditionally difficult open surgical treatment should be considered.     

Medically intractable epilepsy in Sturge‐Weber syndrome is associated with cortical malformation: Implications for surgical therapy

Purpose : Anecdotal reports have described cortical malformations in epileptic patients with Sturge‐Weber syndrome (SWS). No data are available regarding the prevalence and significance of this association. Methods : We reviewed retrospectively the clinical profile, preoperative magnetic resonance imaging (MRI) studies, and pathology reports of all patients with SWS and medically intractable epilepsy evaluated in our epilepsy surgery program between 1979 and 2006. Results : Twelve patients (male/female = 7/5) were identified. Mean age at seizure onset was 11.1 ± 16.7 months. Seizures occurred daily in seven patients and weekly in five patients. A facial port‐wine stain was noted in 10 cases. Eleven patients evidenced developmental delay and eight were hemiparetic. Eight patients underwent excisional surgery for epilepsy (mean age 10.3 ± 6.5 year), including hemispherectomy (n = 4) and focal cortical resection (n = 4). Tissue was available for neuropathology in six operated cases and revealed polymicrogyria (n = 3) and cortical dysplasia (n = 4). Polymicrogyria was associated with cortical dysplasia in one child. Brain MRIs were reviewed in 10 of 12 patients and were consistent with cortical malformations in all cases. Conclusions : We conclude that cortical malformations are frequent in patients with medically intractable epilepsy and Sturge‐Weber‐syndrome and may be the primary cause of epilepsy.     

Tiagabine-induced generalised non convulsive status epilepticus in patients with lesional focal epilepsy.

PURPOSE: To report 3 cases with focal lesional epilepsy that had non-convulsive status epilepticus (NCSE) induced by treatment with tiagabine (TGB) and review the previously published cases. Drugs that enhance GABAnergic transmission are recognised to promote absence seizures in patients with generalised epilepsy syndromes and may on occasions even induce NCSE. However, that TGB can also induce NCSE in focal lesional epilepsy is not widely recognised in clinical practice. METHOD: The clinical history, EEG and MRI findings were reviewed in 3 patients with lesional focal epilepsy who presented to our epilepsy programs over a 12 month period with TGB-induced NCSE. All previously reported cases in the English medical literature were reviewed. RESULTS: The three patients had longstanding complex partial and secondarily generalised seizures refractory to multiple different anti-epileptic drugs. In two cases, MRI demonstrated a focal malformation of cortical development in the left parieto-occipital region and in the third left mesial temporal sclerosis. Following commencement of TGB in one patient and dose escalation in two, prolonged episodes of confusion and poor responsiveness were noted. Prolonged EEG monitoring demonstrated continuous high amplitude, generalised, 2-4 Hz delta activity with intermingled spikes during the episodes of unresponsiveness, consistent with NCSE. The clinical and EEG activity normalised following the administration of IV clonazepam followed by dose reduction or withdrawal of the TGB. Eleven previously reported cases of patients with partial epilepsy and a focal underlying lesion on MRI were identified, all of whom had similar features to that seen in our cases. CONCLUSIONS: These cases illustrate that TGB may induce generalised NCSE in patients with focal lesional epilepsy, in addition to those with generalised syndromes. We hypothesise that patients may have developed an acquired alteration in the sensitivity of their thalamocortical circuitry that renders them more sensitive to the effects of drugs that enhance GABAnergic activity.     

The coexistence of idiopathic generalized epilepsy and partial epilepsy

PURPOSE: To describe the clinical, EEG, and imaging data of a series of patients with features of both idiopathic generalized epilepsy (IGE) and partial epilepsy. METHODS: A computerized database of all patients attending the regional epilepsy clinic was used to identify all patients with IGE. Case notes were reviewed, and cases with clinical evidence of co-existing partial epilepsy identified. RESULTS: Nine cases with clinical features of a partial and generalized-onset epilepsy and with electrophysiological evidence of IGE are presented. This represented <1% of the overall IGE population in the clinic. Five (55.6%) patients are currently in remission, with successful epilepsy surgery in one patient. CONCLUSIONS: The coexistence of IGE and partial epilepsy is uncommon, and if appropriate treatment with a broad-spectrum antiepileptic drug is given, then the prognosis can be good. Surgery should be considered for those cases with medically intractable partial-onset seizures as part of this syndrome.     

改良大脑半球切除术治疗儿童半侧巨脑畸形伴顽固性癫癎的研究

目的探讨儿童半侧巨脑畸形并顽固性癫癎的临床、脑电图、组织学及影像学特点,以及大脑半球切除术对其治疗的效果评估。方法 对6例半侧巨脑畸形的患儿临床资料进行回顾性分析,此6例患儿均实施了大脑半球切除术的治疗。结果 6名实施了手术的患儿中5名癫癎发作完全控制,1名部分缓解,而且患儿的精神运动发育障碍得到明显改善。结论 半侧巨脑畸形的患儿有相似的临床、组织学、脑电图及影像学表现。用大脑半球切除术进行治疗可以获得成功。另外,我们认为有必要在术前和术后进行长程脑电图监测,以验证正常大脑半球中没有癫癎样的并常放电。     

Standard magnetic resonance imaging is inadequate for patients with refractory focal epilepsy

OBJECTIVES: Patients with intractable epilepsy may benefit from epilepsy surgery especially if they have a radiologically demonstrable cerebral lesion. Dedicated magnetic resonance imaging (MRI) protocols as performed at epilepsy surgery centres can detect epileptogenic abnormalities with great sensitivity and specificity. However, many patients with epilepsy are investigated with standard MRI sequences by radiologist outside epilepsy centres ("non-experts"). This study was undertaken to compare standard MRI and epilepsy specific MRI findings in patients with focal epilepsy. METHODS: Comparison of results of standard MRI reported by "non-expert" radiologists, standard MRI evaluated by epilepsy "expert" radiologists, and epilepsy specific MRI read by "expert" radiologists in 123 consecutive patients undergoing epilepsy surgery evaluation between 1996 and 1999. Validation of radiological findings by correlation with postoperative histological examination. RESULTS: Sensitivity of "non-expert" reports of standard MRI reports for focal lesions was 39%, of "expert" reports of standard MRI 50%, and of epilepsy dedicated MRI 91%. Dedicated MRI showed focal lesions in 85% of patients with "non-lesional" standard MRI. The technical quality of standard MRI improved during the study period, but "non-expert" reporting did not. In particular, hippocampal sclerosis was missed in 86% of cases. Neuropathological diagnoses (n=90) were predicted correctly in 22% of "non-expert" standard MRI reports but by 89% of dedicated MRI reports. CONCLUSIONS: Standard MRI failed to detect 57% of focal epileptogenic lesions. Patients without MRI lesion are less likely to be considered candidates for epilepsy surgery. Patients with refractory epilepsy should be referred to an MRI unit with epileptological experience at an early point.     

Childhood epilepsy with occipital paroxysms and benign nocturnal childhood occipital epilepsy

Two types of childhood epilepsy have recently been reported: childhood epilepsy with occipital paroxysms, and benign nocturnal childhood occipital epilepsy. This article reports the clinical evolution, electroencephalographic (EEG) changes, and response to therapy of eight children with childhood epilepsy with occipital paroxysms (five boys and three girls, aged from 1 1/12 to 8 years) and eight children with benign nocturnal childhood occipital epilepsy (six boys and two girls, aged from 1 4/12 to 8 3/12 years). A careful clinical and EEG follow-up of at least 7 years was carried out for all patients. At the end of follow-up, all but one of the patients with childhood epilepsy with occipital paroxysms were seizure-free, and only two were still receiving anticonvulsant drugs. All but three children had a normal EEG, and normal mental development was observed in all but two cases. Patients with benign nocturnal childhood occipital epilepsy had a good long-term prognosis; all but two children with benign nocturnal childhood occipital epilepsy had a normal EEG. These two patients showed learning disabilities and poor school performances, and required remedial education. Therefore, although childhood epilepsy with occipital paroxysms and benign nocturnal childhood occipital epilepsy are two different types of epilepsy, the long-term prognosis seems to be similar.