Kobayashi Katsuhiro, Takeuchi Akihito, Oka Makio, Akiyama Mari, Ohtsuka Yoko
Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences and Okayama University Hospital, Okayama, Japan.
Brain Dev. 2012 May;34(5):368-71. doi: 10.1016/j.braindev.2011.07.013. Epub 2011 Sep 1.
We report on an 18-year-old male patient with dentatorubral-pallidoluysian atrophy (DRPLA) (number of CAG repeats: 68) with progressive myoclonus epilepsy (PME), who showed a dramatic response to levetiracetam in terms of the intensity of myoclonus. He began to have convulsive seizures and myoclonus at 7 and 10 years of age, respectively, and his intelligence deteriorated from 12 years of age. EEG showed multifocal and diffuse spike-and-wave complexes. His convulsive seizures were suppressed from 13 years of age. At 17 years of age, the patient showed gradual intensification of erratic segmental positive myoclonus as well as frequent atonic falls that were probably attributable to negative myoclonus. Back averaging of EEG data revealed cortical discharges associated with positive myoclonus. Photosensitive myoclonic seizures were also observed. The administration of levetiracetam alleviated positive myoclonus and suppressed atonic falls, resulting in a remarkable improvement in the patient's quality of daily life. Reports on the efficacy of levetiracetam for myoclonus in DRPLA are still rare, though its effect on PME is known in the context of other neurological disorders. Thus levetiracetam should be subjected to clinical trials as a means of disabling myoclonus in DRPLA.
我们报告了一例18岁男性齿状核红核苍白球路易体萎缩症(DRPLA)患者(CAG重复次数:68),伴有进行性肌阵挛癫痫(PME),该患者在肌阵挛强度方面对左乙拉西坦表现出显著反应。他分别在7岁和10岁时开始出现惊厥性癫痫发作和肌阵挛,12岁时智力开始衰退。脑电图显示多灶性和弥漫性棘波-慢波复合波。他的惊厥性癫痫发作从13岁起得到控制。17岁时,患者逐渐出现不规则节段性阳性肌阵挛加剧以及频繁的无张力性跌倒,后者可能归因于阴性肌阵挛。脑电图数据的反向平均显示与阳性肌阵挛相关的皮质放电。还观察到光敏性肌阵挛癫痫发作。左乙拉西坦的使用减轻了阳性肌阵挛并抑制了无张力性跌倒,使患者的日常生活质量得到显著改善。虽然左乙拉西坦对PME在其他神经系统疾病中的作用是已知的,但关于其对DRPLA中肌阵挛疗效的报道仍然很少。因此,左乙拉西坦应作为一种治疗DRPLA中致残性肌阵挛的方法进行临床试验。