在Leber遗传性视神经病变中早期发病的听力损失:一个病例报告
Maria Al Bandari1, Enas Nasr2, Sharon L Cushing3,4,5,6
1Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada.
Ear, nose, & throat journal
|June 19, 2025
概括
勒伯遗传性视神经病变 (LHON) 通常会影响视力. 本报告详细介绍了一种罕见的LHON病例,同时出现感觉神经听力损失 (SNHL),在婴儿期确诊.
科学领域:
- 眼科医生 眼科 眼科
- 遗传学 是一个遗传学.
- 神经学 神经学
背景情况:
- 勒伯遗传性视神经病变 (LHON) 是一种常见的线粒体疾病,在年轻人中导致视力丧失.
- 神经和心脏问题是已知的LHON的眼外表现.
- 感觉神经听力损失 (SNHL) 之前没有与LHON相关.
研究的目的:
- 报告一个不寻常的LHON病例与同时出现的SNHL.
- 突出LHON.的潜在,以前未经记录的临床特征.
主要方法:
- 一个被诊断患有LHON和SNHL的患者的病例报告.
- 基因分析包括遗传性听力损失面板和线粒体基因组的下一代测序.
- 传染病检查和脑磁共振成像.
主要成果:
- 患者患有LHON与常见的m.11778G>A变体和双边轻度至中度高频率SNHL新生儿诊断.
- 基因检测没有发现听力损失的第二种致病变体.
- 感染性工作和MRI是正常的.
结论:
- 这是SNHL在LHON患者中首次报告的病例.
- SNHL可能是罕见的,以前未被识别的LHON的临床表现.
- 需要进一步的研究来理解这种关联.
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