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1例家族性特发性肌阵挛和癫痫,肌阵挛肢体同侧半球疑似存在病灶

[A case of familial essential myoclonus and epilepsy with suspected focus in the hemisphere ipsilateral to myoclonus limbs].

作者信息

Asai Hirohide, Udaka Fukashi, Oishi Naoya, Kubori Tamotsu, Kameyama Masakuni

机构信息

Department of Neurology, Sumitomo Hospital, 5-3-20 Nakanoshima, Kita-ku, Osaka 530-0005, Japan.

出版信息

No To Shinkei. 2004 Jun;56(6):509-13.

Abstract

A 50-year-old man who first noticed shaking of the hands at age of 18 and had previous history of three convulsive episodes was admitted to our department because of the generalized tonic seizure with loss of consciousness. Family history showed that 7 members had similar shaking and one had generalized seizure. On neurological examination, rhythmic myoclonic jerks were noted in the bilateral upper limbs, and was remarkably more severe on the left. Other neurological findings were normal. Based on the benign clinical course, familial history, and the normal range of pyruvate and lactate levels in serum and cerebrospinal fluid, we diagnosed familial essential myoclonus and epilepsy (FEME)/benign adult familial myoclonic and epilepsy (BAFME). After admission, we performed electrophysiological test. EEG showed spike discharge mainly in the left parietooccipital lobe. Jerk-locked back averaging (JLA) showed spikes 30 msec precedings the trigger in the left parietooccipital lobe. Because JLA spikes are commonly found 20 msec precedings the trigger, we consider the subtraction time of 10 msec was due to the conduction through the corpus callosum. Some reports showed that in progressive myoclonus epilepsy patients, transcallosal excitation of one hemisphere by the other was critical for generalized seizure. In cases of FEME/BAFME, epileptic focus in the hemisphere ipsilateral to the myoclonus limbs has not previously reported. Our case suggested that generalization of the seizure was caused by the interhemispheric excitation through the corpus callosum.

摘要

一名50岁男性,18岁时首次注意到手部震颤,既往有3次惊厥发作史,因全身强直发作伴意识丧失入住我科。家族史显示,7名家庭成员有类似震颤,1人有全身发作。神经系统检查发现,双侧上肢有节律性肌阵挛性抽搐,左侧更为严重。其他神经系统检查结果正常。基于良性临床病程、家族史以及血清和脑脊液中丙酮酸和乳酸水平在正常范围内,我们诊断为家族性特发性肌阵挛和癫痫(FEME)/良性成人家族性肌阵挛和癫痫(BAFME)。入院后,我们进行了电生理检查。脑电图显示棘波放电主要位于左侧顶枕叶。抽搐锁定反向平均(JLA)显示,在左侧顶枕叶,触发前30毫秒出现棘波。由于JLA棘波通常在触发前20毫秒出现,我们认为10毫秒的时间差是由于通过胼胝体的传导所致。一些报告显示,在进行性肌阵挛癫痫患者中,一个半球对另一个半球的胼胝体兴奋对全身发作至关重要。在FEME/BAFME病例中,肌阵挛肢体同侧半球的癫痫病灶此前未见报道。我们的病例表明,发作的泛化是由通过胼胝体的半球间兴奋引起的。

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