线粒体脑筋疲劳症,乳酸和类似中风的发作与共存的内马林肌肉病变:一个病例报告
Kawmadi Gunawardena1,2, Somasundaram Praveenan3, Vajira H W Dissanayake3
1Pediatric Neurology Department, Lady Ridgeway Hospital for Children, Colombo 08, Sri Lanka. kawmadigunawardena@gmail.com.
Journal of medical case reports
|September 9, 2024
概括
这份报告详细介绍了第一个已知的儿童患有线粒体脑筋疲劳症,乳酸性酸症和类似中风的发作 (MELAS) 和内马林肌肉病的病例. 基因检测证实了这些罕见的并存疾病,强调了准确诊断的重要性.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 儿科 儿科 儿科
背景情况:
- 线粒体脑筋疲劳症,乳酸性酸症和类似中风的情节 (MELAS) 和内马林肌病是罕见的遗传性疾病.
- 这两种情况的共存是非常罕见的,而这起案件是全球第一个有记录的案例.
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