Nakano K, Hayakawa T, Shishikura K, Ohsawa M, Suzuki H, Fukuyama Y
Department of Pediatrics, Tokyo Women's Medical College, Japan.
Brain Dev. 1990;12(5):516-20. doi: 10.1016/s0387-7604(12)80218-x.
We report a 3-year-11-month-old boy who manifested action myoclonus only. Histochemical analysis of the quadriceps muscle revealed subsarcolemmal hyperactivity. The administration of 5-hydroxytryptophan and carbidopa dramatically improved the action myoclonus and reduced an amplitude of giant somatosensory evoked potentials. A nosological relation of this case with "essential myoclonus" and mitochondrial encephalomyopathy was discussed.
我们报告了一名3岁11个月大的男孩,他仅表现为动作性肌阵挛。股四头肌的组织化学分析显示肌膜下活性增强。给予5-羟色氨酸和卡比多巴后,动作性肌阵挛显著改善,体感诱发电位的波幅降低。讨论了该病例与“特发性肌阵挛”和线粒体脑病的疾病关系。