青少年肌阵挛性癫(癎)

青少年肌阵挛性癫     

青少年肌阵挛性癫(癎)

青少年肌阵挛性癫是一种以晨起肌阵挛、全身强直-阵挛发作为临床特征的特发性全身性癫综合征,有时伴有失神发作。本文就青少年肌阵挛性癫的临床表现、遗传学、脑电图特点、鉴别诊断以及治疗方法进行了阐述。     

青少年肌阵挛性癫癎临床特点分析

青少年肌阵挛性癫癎（juvenile myoclonic epilepsy,JME）是一种常见的特发性全身性癫癎综合征,以肌阵挛发作为突出临床表现,约占全部癫癎患者的5%～10%.我们回顾性分析1995-2005年经我院确诊的87例JME患者临床和脑电图资料,报道如下。     

31例青少年肌阵挛性癫痫临床表现脑电图特点及误诊分析

目的 回顾性分析31例青少年肌阵挛性癫痫(JME)患者的临床、脑电图特点及误诊原因.方法 收集2008年9月～2011年1月在我院癫痫诊治中心诊治的31例JME患者,对其临床表现、脑电图改变及药物治疗疗效进行总结性分析.结果 31例患者表现单纯肌阵挛发作者12例;肌阵挛伴全身强直-阵挛发作者15例;肌阵挛伴失神发作者4例.长程录像脑电图检查,24例患者于监测过程中出现肌阵挛发作,脑电见与发作同步的对称性、泛化性多棘慢波、棘慢波爆发.既往就诊中诊断为全身强直-阵挛发作者17例,抽动症者8例,部分性发作者4例,正常者2例.依据发作类型给予治疗后肌阵挛症状1w内消失者13人;2w内消失者11人;1个月内消失者6人,每月内均有3～4次肌阵挛发作者1人.继发的全身强直-阵挛性发作,半年内消失者20例;1年内消失者11例.结论 青少年肌阵挛性癫痫,以短暂的、无节律性、不规则的肌阵挛抽动为特点,由于症状不典型容易造成误诊,长程录像脑电图检查,附加闪光刺激、睡眠剥夺等诱发试验,提高阳性诊断率,对症治疗效果好.     

青少年肌阵挛性癫癎87例临床及治疗特点分析

目的分析青少年肌阵挛性癫的临床及治疗特点。方法对87例青少年肌阵挛性癫患者进行回顾性分析,包括家族史、热性惊厥史、发病规律、临床表现、脑电图、变化及治疗效果。结果10例(11.5%)患者亲属中有癫史,12例(13.8%)患者有热性惊厥。肌阵挛发作起病年龄(13.1±3.4)岁;伴发强直阵挛发作平均起病年龄(14.3±3.8)岁;伴失神发作平均起病年龄(10.0±3.3)岁。平均延误诊断时间2.2年。睡眠诱发、闪光诱发刺激脑电图检查可提高性放电检出阳性率。16例患者在抗癫治疗中出现了癫发作次数或强度的增加。给予丙戊酸钠单药治疗的45例(75%)患者癫发作可得到控制。结论临床工作中对该病认识不足,极易误诊,造成疾病治疗迁延不愈,甚至出现治疗中因抗癫药物选择不合理而引起癫发作增加;小剂量丙戊酸钠治疗有效。     

青少年肌阵挛性癫痫的研究动态

青少年肌阵挛性癫痫(juvenile myoclonic epilepsy,JME)是一种特发性全身性癫痫综合征,以肌阵挛发作为突出表现.Herpin于1867年首次描述了1个JME病例,该病例为一13岁的男孩,开始表现为上身抽搐,3个月后进展为"完全的癫痫发作".     

青少年肌阵挛性癲痫20例临床特点分析

目的 研究青少年肌阵挛性癫痫患者(juvenile myoclonic epilepsy,JME)的临床及脑电图特点,探讨JME诊断要点.方法 回顾性分析在宣武医院癫痫门诊就诊的20例JME患者,总结其一般特点、发作类型及脑电图特点.结果 20例患者均有肌阵挛发作,部分合并全面强直一阵挛发作或典型失神发作.16例患者的脑电图可见全导爆发出现的棘慢波或多棘慢波,其中4例合并局灶性的异常.导致漏诊的最主要因素是肌阵挛发作的病史询问欠详.结论 JME的正确诊断主要依据其临床特点,询问肌阵挛发作的病史以得到诊断的关键信息,脑电图只是辅助的诊断工具.     

癫(癎)与可疑癫(癎)临床发作时的动态脑电图分析

目的探讨癫痫与可疑癫痫临床发作时的动态脑电图（AEEG）的变化特征。方法本文对316例癫痫临床发作时的动态脑电图进行分析。结果临床发作时癫痫组162例中，AEEG监测结果正常为49例（30．25％），异常为113例（69．75％）；在临床诊断可疑癫痫的154例中，AEEG监测结果正常为110例（71．43％），异常44例（28．57％）。癫痫组与可疑癫痫组临床发作时癫痫样波的发放有非常显著性差异（x^2=53．56，P〈0．001）。结论AEEG因大大增加了描记时间而使EEG阳性率明显提高，临床发作与同步的AEEG痫样波的发放对癫痫的诊断非常重要。尤其对许多非痫性发作性疾病与癫痫发作的鉴别诊断更有重要意义。     

特殊表现癫(癎)43例误诊分析

癫(癎)的临床表现复杂多样,典型发作的癫(癎)容易诊断,然而有些病例的发作异常特殊,易造成误诊漏诊.本文复习我院近10年来收治的癫(癎)病例43例,因表现特殊而被误诊,绝大部分以儿童为主,现将有关资料报告分析如下.     

Clinical genetic study in juvenile myoclonic epilepsy

PurposeTo evaluate clinical features of probands with juvenile myoclonic epilepsy (JME) and affected members of their families in order to study clinical genetics of JME.MethodThirteen unrelated families with at least two members with history of seizures were identified; clinical and genealogic data were collected from JME probands and family members.ResultsAll probands had myoclonic and generalized tonic–clonic seizures (GTCS), while absences occurred in 25% of them. The average age of seizure onset was 13 years. Totally 22 members from 13 families had history of seizures with average age of seizure onset at 18 years. Ten family members had JME, three had epilepsy with GTCS, two had juvenile absence epilepsy, one had adult onset myoclonic epilepsy and six of the affected individuals had unclassified type of epilepsy. In five families, JME was the solely clinical feature. JME dominated among siblings, while phenotypic heterogeneity was observed in second and third degree relatives. In three multi-generation families, members with adult onset genetic generalized epilepsies (GGE) were identified.ConclusionWe found phenotypic heterogeneity regarding epilepsy type and age of seizure onset. Using pedigree analysis, we found no evidence for preferential maternal or any other distinctive inheritance pattern. Further study is needed to confirm and clarify the results.     

Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy

PURPOSE: A few reports have described focal electroencephalographic or clinical features or both of juvenile myoclonic epilepsy (JME), but without video-EEG documentation. We examined focal clinical and EEG features in patients with JME who underwent video-EEG monitoring. METHODS: Twenty-six patients (nine males and 17 females) who had seizures recorded during video-EEG monitoring were included. Age at seizure onset was 0 to 22 years (mean, 12.3 years), and age at monitoring was 12 to 44 years (mean, 26.5 years). In one patient with left parietooccipital epilepsy, primary generalized tonic-clonic seizures developed after resection of the parietal tumor. Two patients had both temporal lobe epilepsy and JME. Videotaped seizures in each patient were analyzed. Interictal and ictal EEG also were analyzed for any focal features. RESULTS: Focal semiologic features were observed in 12 (46%) of 26 patients. Six patients had focal myoclonic seizures, and two had Figure 4 sign: one with version to the left, and another had left version followed by Figure 4 sign, and left arm clonic seizure. Their ictal EEGs were generalized at onset but with a lateralized evolution over the right hemisphere. The patient who had both JME and left parietooccipital epilepsy, right arm clonic seizure, and Figure 4 sign was seen during a generalized EEG seizure. Interictally, one patient had temporal sharp waves, and another had run of spikes in the right frontal region. CONCLUSIONS: Fourteen (54%) of 26 patients with JME exhibited focal semiologic or electroencephalographic features or both. Video-EEG was essential in reaching a correct diagnosis and choosing an appropriate antiepileptic drug regimen.     

Frontal cognitive dysfunction in juvenile myoclonic epilepsy

PURPOSE: The aim of the present study was to investigate the possible frontal cognitive dysfunction in patients with juvenile myoclonic epilepsy (JME) and to compare the results with those of patients with frontal lobe epilepsy (FLE) and temporal lobe epilepsy (TLE), as well as with controls. METHODS: A total of 50 patients with JME, 40 patients with FLE, 40 patients with TLE, and 40 normal controls, all matched for age, education, and IQ, were administered tests to assess frontal functions (the Word Fluency Test and the Wisconsin Card Sorting Test [WCST]). All participants had a normal intelligence level based on the Wechsler Adult Intelligence Scale, and did not take medications other than antiepileptics (AEDs) or have a psychiatric history. RESULTS: Patients with JME had severe impairment in all administered tasks, similar to that of patients with FLE; TLE patients and controls followed in order. Multiple regression analysis did not disclose any significant effect of clinical variables on the cognitive deficits. DISCUSSION: These results clearly suggest that JME patients can show some frontal dysfunction, which may affect both epileptogenic features and cognitive processes. Further studies are needed to confirm these findings.     

Psychiatric comorbidity in juvenile myoclonic epilepsy

OBJECTIVE: To assess the prevalence of psychiatric disturbances among patients with juvenile myoclonic epilepsy (JME). METHODS: Forty-three patients with JME (22 female, 21 male, mean age 32.4+/-13, range 15-63) were assessed by means of the Structured Clinical Interviews for DSM-IV (SCID-I and SCID-II). Current and lifetime psychiatric diagnoses were assigned. RESULTS: Thirty-five percent of the JME patients suffered from one or more psychiatric disorders (Axis I and Axis II). Personality disorders were present in 23% and Axis I disorders in 19%. Altogether, 47% had a psychiatric disorder at any time of their life. CONCLUSIONS: Psychiatric diagnoses are slightly higher than in representative community samples. The substantially increased number of personality disorders in JME patients might be attributed to frontal lobe deficits.     

Occurrence of only myoclonic jerks in juvenile myoclonic epilepsy

Objectives - The clinical data on individuals who were diagnosed to have juvenile myoclonic epilepsy (JME) on the basis of myoclonic jerks alone has been analysed. The points in favour and against individuals with only myoclonic jerks being classified as "affected" for research on JME are discussed.
Materials and methods - We studied 15 persons diagnosed with JME on the basis of only myoclonic jerks in a series of 161 patients with JME and their relatives. Detailed information on the seizure types in JME patients and their family members was collected. All affected individuals were examined by one person and had at least one conventional scalp EEG. CT/MRI of the brain was done as and when indicated.
Results - Nine of these were probands while 6 were the relatives of JME patients. The EEG was abnormal in 8 of 9 probands and 1 of 6 relatives with only myoclonic jerks. All the 9 probands and 2 relatives with only myoclonic jerks were treated with anti-epileptic drugs. Three of the 4 relatives had spontaneous remission of jerks after variable intervals. Four of 15 persons with only myoclonic jerks had a first degree relative with definite JME.
Conclusions - It appears that persons with myoclonic jerks alone may represent a benign subgroup of JME that may be genetically distinct from classic JME and the jerks may even spontaneously remit in a few cases. It is suggested that those persons with only myoclonic jerks and a first degree relationship with a definite diagnosis of JME can be classified as "affected" for inclusion into molecular studies, till molecular tools are available to settle the issue of phenotypic variations in hereditary neurological disorders like JME.     

Connectivity of the supplementary motor area in juvenile myoclonic epilepsy and frontal lobe epilepsy

Purpose: Subtle structural abnormalities of frontal lobe gray and white matter have been described in cryptogenic frontal lobe and idiopathic generalized epilepsies. The supplementary motor area (SMA) has a role in motor control, and its involvement during frontal lobe epileptic seizures is characterized by a typical asymmetric tonic posturing. Moreover, motor networks are dysfunctional in juvenile myoclonic epilepsy (JME). We tested the hypothesis that SMA structural connectivity is altered in focal frontal lobe epilepsy (FLE) and JME compared to healthy controls. Methods: Diffusion tensor imaging (DTI) and probabilistic tractography were used to map the structural connectivity of the SMA, defined by motor functional magnetic resonance imaging (MRI), in 15 patients with JME, 36 patients with FLE, and 18 healthy controls. Key Findings: Structural connectivity of the SMA was significantly reduced in JME compared to controls (reduced fractional anisotropy and increased mean diffusivity). In FLE there was no significant difference compared to controls, and in all groups there was stronger connectivity in the left hemisphere (higher fractional anisotropy) compared to the right. There was no difference in SMA connectivity between patients with medial or lateral frontal lobe epileptic foci. Significance: Reduced white matter connectivity is the structural correlate of functional frontal lobe abnormalities in JME. In FLE, the structural connectivity of the SMA was preserved, suggesting a robust motor network that is not compromised by longstanding epilepsy involving the medial frontal lobes.     

Personality profile of patients with juvenile myoclonic epilepsy

In the study described here we attempted to evaluate the personality profiles of 25 patients with juvenile myoclonic epilepsy (JME) at the time of diagnosis, before treatment, and to explore a potential relationship between behavioral aspects and clinical outcome. For this purpose we employed a standardized and objective instrument, the Minnesota Multiphasic Personality Inventory (MMPI), and found that patients with JME have a personality profile similar to that of the control group, which corresponds to the 3,1 code type MMPI profile. We also noted that the characteristics of this personality type include those described in patients with long-duration JME by previous researchers. Consequently, we conclude that personality aberrations are not a feature of this syndrome. Furthermore, we observed that under treatment, EEGs normalized in patients who had exhibited “psychotic tendencies” pretreatment. The credibility of our results is supported by the fact that assessment of the personality profile was not confounded by medication or the longitudinal burden of epileptic seizures.     

Low dose sodium valproate in the treatment of juvenile myoclonic epilepsy

Fourteen patients with juvenile myoclonic epilepsy (JME) were treated with a single low dose of a sustained-release preparation of sodium valproate (VPA, 500 mg daily). The mean age of the onset of the low dose treatment was 19.2 years (range 14–26). Before this treatment, six patients had been treated with high dose VPA for a period of more than 2 years, three patients for 1 to 2 years, three patients less than 1 year and two patients initiated the treatment from the begining with a low dose. The mean duration of low dose treatment is 35.6 months (range 25–59 months). (All patients are still under medication). Generalized tonic-clonic and absence seizures were controlled in all patients. Myoclonic jerks relapsed only in one patient, a young mother who was looking after her newly born baby and was deprived of sleep. No adverse reactions have been reported. We suggest that JME patients can effectively be treated with single low VPA dose (500 mg daily), while at the same time seizure precipitating factors, such as sleep deprivation and alcohol ingestion, should be avoided. Received: 26 January 2001, Received in revised form: 30 July 2001, Accepted: 3 August 2001     

Effects of levetiracetam on EEG abnormalities in juvenile myoclonic epilepsy

PURPOSE: A multicenter, prospective, long-term, open-label study to evaluate the effects of levetiracetam on electroencephalogram (EEG) abnormalities and photoparoxysmal response (PPR) of patients affected by juvenile myoclonic epilepsy (JME). METHODS: Forty-eight patients with newly diagnosed JME (10) or resistant/intolerant (38) to previous antiepileptic drugs (AEDs) were enrolled. After an 8-week baseline period, levetiracetam was titrated in 2 weeks to 500 mg b.i.d. and then increased to up to 3,000 mg/day. Efficacy parameters were based on the comparison and analysis of EEG interictal abnormalities classified as spikes-and-waves, polyspikes-and-waves, and presence of PPR. Secondary end point was evaluation of EEG and PPR changes as predictive factors of 12-month seizure freedom. RESULTS: Overall, mean dose of levetiracetam was 2,208 mg/day. Mean study period was 19.3 +/- 11.5 months (range 0.3-38). During the baseline period, interictal EEG abnormalities were detected in 44/48 patients (91.6%) and PPR was determined in 17/48 (35.4%) of patients. After levetiracetam treatment, 27/48 (56.2%) of patients compared to 4/48 (8.3%) in the baseline period (p < 0.0001) had a normal EEG. Thirteen of 17 (76.4%) (p < 0.0003) patients showed suppression of PPR. Cumulative probability of days with myoclonia (DWM) 12-month remission was significantly higher (p < 0.05) in patients with a normal (normalized) EEG after levetiracetam treatment compared to those with an unchanged EEG. CONCLUSIONS: Levetiracetam appeared to be effective in decreasing epileptiform EEG abnormalities, and suppressing the PPR in JME patients. This effect, along with a good efficacy and tolerability profile in this population further supports a first-line role for levetiracetam in the treatment of JME.