...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.
【24h】

Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.

机译：使用米格司他治疗C型尼曼-皮克病的瘫痪。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Cataplexy is the sudden muscle weakness brought on by strong emotions, particularly joking, laughter, or anger. Cataplexy may involve only certain group of muscles or the entire voluntary musculature. In rare cases, symptoms of cataplexy can be seen during the course of some inherited diseases (Niemann-Pick type C (NPC), Prader-Willi syndrome, myotonic dystrophy, Norrie disease). We report the successful use of miglustat, a reversible inhibitor of the enzyme glucosylceramide synthase, approved for use in Gaucher's disease, and which catalyses the first step in the biosynthesis of most glycosphingolipid, in a boy with NPC with cataplexy. A 9-year-old boy was admitted for assessments of frequent "drop attacks" while laughing. The filipin fluorescence tests of cultured skin fibroblasts revealed massive accumulation of unesterified cholesterol, confirming the diagnosis of NPC disease. Molecular studies confirmed the diagnosis of NPC too. After approval from the bioethics committee, miglustat was initiated on the child at 100mg three times a day. Cataplectic attacks disappeared completely after 6 months on treatment, and patient continues to be in remission from the cataplectic attacks at 16 months follow-up. There was no further progression of neurological signs or symptoms or splenomegaly, with some improvement in cognitive function as well as social, affective and attention problems, up-gaze, and gait. Miglustat was well tolerated with no side effects observed. In summary, this is the first report of miglustat treatment of cataplexy in NPC. Long-term follow-up for continuing efficacy and tolerability in a larger cohort with NPC is needed to substantiate our observation.
机译：Cataplexy是剧烈的情绪引起的突然的肌肉无力，尤其是在开玩笑，大笑或愤怒时。突发性疾病可能仅涉及某些肌肉群或整个自愿性肌肉组织。在极少数情况下，在某些遗传性疾病（Niemann-Pick C型（NPC），Prader-Willi综合征，强直性营养不良，诺里氏病）的过程中，会出现瘫痪症状。我们报告了米格司他的成功使用，米格司他是一种可逆的酶，氨基葡萄糖神经酰胺合酶的抑制剂，已被批准用于高雪氏病，并且在一个患有NPC并伴有脑瘫的男孩中催化了大多数糖鞘脂的生物合成的第一步。一名9岁男孩因笑时经常发生的“跌落袭击”而被录取。培养的皮肤成纤维细胞的磷脂荧光测试显示大量未酯化胆固醇的积累，证实了NPC疾病的诊断。分子研究也证实了鼻咽癌的诊断。在获得生物伦理委员会的批准后，每天对孩子服用100mg的米格司他3次。治疗6个月后，折返性发作完全消失，并且在16个月的随访中患者继续从折返性发作中恢复。神经症状或症状或脾肿大没有进一步发展，认知功能以及社交，情感和注意问题，凝视和步态都有一定改善。 Miglustat的耐受性良好，未观察到副作用。总而言之，这是米格司他治疗鼻咽癌的首例报道。为了证实我们的观察结果，需要在较大的NPC队列中进行长期随访，以确保持续的疗效和耐受性。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号