Murthy J M, Rao C M, Meena A K
Department of Neurology, Nizam's Institute of Medical Sciences, Panjgutta, Hyderabad, India.
Seizure. 1998 Feb;7(1):43-7. doi: 10.1016/s1059-1311(98)90007-3.
We studied clinical features of 131 patients with juvenile myoclonic epilepsy (JME). The prevalence was 7.7% among the epileptic patients registered. The mean age at onset was 13.37+/-4.93 years and the diagnosis was established at a mean age of 19.53+/-7.85 years. Absence seizures were reported by 27 (20.6%) patients, myoclonic jerks by 131 (100%) and generalized tonic-clonic seizures (GTCS) by 111 (84.7%). The triad of absence seizures, myoclonic jerks and GTCS was noted in 23 (17.5%) patients, 88 (67.2%) had myoclonic jerks and GTCS, 4 (3%) had absence seizures and myoclonic jerks and 16 (12.2%) had only myoclonic jerks. Early onset absences were seen in 21 (16%) patients and the onset was late in 6 (4.6%). Absences antedated other types of seizures in all the patients. Myoclonic jerks were predominantly unilateral or had unilateral onset in 22 (16.8%). In 17 (13%) patients GTCS antedated myoclonic jerks. Myoclonic jerks had characteristic circadian distribution in 112 (85.5%) patients. On awakening GTCS occurred in 87 (78.4%) patients and in 4 (3.6%) patients they were purely nocturnal. Sleep deprivation was the most important precipitating factor (54.2%). Initial electroencephalogram (EEG) showed classical generalized spike or multiple-spike slow-wave paroxysms in 81% of records. Focal EEG abnormalities were noted in 20.6% of records. The most common focal abnormality was voltage asymmetry. A family history of epilepsy was noted in 31 (23.6%) probands. Diagnosis of JME was made in all the cases in the clinic. The factors responsible for delay in diagnosis of the 36 patients seen by neurologists included failure to ask or interpret the history which was otherwise suggestive of myoclonic jerks in all 36 (100%) cases, the type of seizure for which the patients sought medical attention, and misinterpretation of EEGs in 28 patients. Diagnosis of partial epilepsy was made in seven patients. The factors responsible for such diagnoses were, unilateral jerks in one patient, unilateral jerks and absence seizures in three patients and focal EEG abnormalities in three patients.
我们研究了131例青少年肌阵挛性癫痫（JME）患者的临床特征。在登记的癫痫患者中，其患病率为7.7%。发病的平均年龄为13.37±4.93岁，确诊时的平均年龄为19.53±7.85岁。27例（20.6%）患者有失神发作，131例（100%）有肌阵挛性抽搐，111例（84.7%）有全面强直-阵挛发作（GTCS）。23例（17.5%）患者出现失神发作、肌阵挛性抽搐和GTCS三联征，88例（67.2%）有肌阵挛性抽搐和GTCS，4例（3%）有失神发作和肌阵挛性抽搐，16例（12.2%）仅有肌阵挛性抽搐。21例（16%）患者失神发作起病早，6例（4.6%）起病晚。所有患者中失神发作均早于其他类型的发作。22例（16.8%）患者的肌阵挛性抽搐主要为单侧或单侧起病。17例（13%）患者的GTCS早于肌阵挛性抽搐。112例（85.5%）患者的肌阵挛性抽搐具有特征性的昼夜分布。87例（78.4%）患者在觉醒时出现GTCS，4例（3.6%）患者仅在夜间出现。睡眠剥夺是最重要的诱发因素（54.2%）。初始脑电图（EEG）显示81%的记录有典型的全面性棘波或多棘慢波阵发。20.6%的记录有局灶性EEG异常。最常见的局灶性异常是电压不对称。31例（23.6%）先证者有癫痫家族史。所有病例均在门诊确诊为JME。神经科医生诊治的36例患者诊断延迟的原因包括：在所有36例（100%）病例中未询问或错误解读有肌阵挛性抽搐提示的病史、患者就诊时的发作类型以及28例患者对EEG的错误解读。7例患者被诊断为部分性癫痫。导致此类诊断的原因是：1例患者有单侧抽搐，3例患者有单侧抽搐和失神发作，3例患者有局灶性EEG异常。
