一个患有LYRM7相关白脑病变的儿童的双边视力突然丧失
Lubhavni Dewan1, Vyshnavika Mupparapu2, Ramesh Kekunnaya3
1Standard Chartered Academy of Eye Care Education, L V. Prasad Eye Institute, Hyderabad, Telangana, India; Jasti V. Ramanamma Children's Eye Care Centre, Child Sight Institute, L V. Prasad Eye Institute, Hyderabad, Telangana, India.
概括
一个视力不佳和神经症状的孩子被诊断出患有线粒体复合物III缺乏症,原因是LYRM7基因变异. 用线粒体尾酒治疗改善了他的视觉功能.
科学领域:
- 儿科神经学 儿科神经学
- 线粒体疾病 线粒体疾病
- 神经眼科神经眼科
背景情况:
- 线粒体疾病可以在儿童中表现出各种神经和眼科症状.
- 在儿科线粒体疾病中,视神经的参与是视力障碍的重要原因.
研究的目的:
- 报告小儿病人的线粒体复合体III缺陷病例,表现为视力缩和神经症状.
- 突出整个外体序列测序和磁共振光谱在识别儿科线粒体疾病的新型遗传原因的诊断实用性.
主要方法:
- 一个四岁男孩的临床表现,视力差,发烧性疾病,发作和代谢性酸化.
- 神经成像发现包括视神经增强,白质超强度和磁共振光谱上的乳酸峰值.
- 使用整体外基因组测序的基因分析揭示了LYRM7基因中的同卵性致病变体.
主要成果:
- 患者表现出双边部分光学缩和神经成像,与主要线粒体疾病一致.
- 在LYRM7基因中发现了一种同卵性致病变体 (c.2T>C),证实了线粒体复合体III缺陷.
- 启动线粒体尾酒疗法导致患者视觉行为的明显改善.
结论:
- LYRM7基因变体是线粒体复合体III缺乏症的新奇原因,在童年时呈现严重的神经和视觉障碍.
- 早期诊断和有针对性的线粒体治疗可以显著改善受影响儿童的视觉结果.
- 这一案例强调了综合诊断方法的重要性,包括遗传测序,用于罕见的儿科线粒体疾病.
更多相关视频
09:57Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization
Published on: September 20, 2024
3.4K
06:04Author Spotlight: Studying Clinical Characters and Epilepsy Outcomes After Frontal Disconnection in Patients with MOGHE
Published on: August 16, 2024
1.5K
相关概念视频
Photoreceptors and Visual Pathways
8.7K
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
8.7K
Lysosomal Hydrolases
4.4K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.4K
