患有COQ8A相关的辅酶Q10缺乏症的患者中发生了类似中风的发作和
Rithvik Ramesh1,2, Sundar Hariharan3, Latha Sundar4
1Department of Neurology, Sri Ramachandra Institute of Higher Education and Research, Porur, Chennai, Tamil Nadu, India.
主要辅酶Q10 (CoQ10) 缺乏症是一种罕见的成人发病症,在一名老年男性中诊断出患有动力衰竭和发作. 这一案例凸显了 CoQ10 缺乏在晚年呈现异常的诊断挑战.
科学领域:
- 神经学 神经学
- 代谢障碍 代谢障碍 代谢障碍
- 遗传学 是一个遗传学.
背景情况:
- 主要辅酶Q10 (CoQ10) 缺乏症是一种罕见的遗传代谢障碍.
- 它通常在儿童时期出现,但晚期发病的病例非常罕见.
- 辅酶Q10对于线粒体的能量生产和抗氧化剂防御至关重要.
研究的目的:
- 报告一种罕见的成人初级辅酶Q10缺乏症病例.
- 突出与非典型呈现相关的诊断挑战.
- 强调在有神经症状的成年人中考虑辅酶Q10缺乏的重要性.
主要方法:
- 一个老年男性的病例报告,病史有着动力衰竭和视力障碍.
- 临床表现包括在成像上出现的反复发作和类似中风的发作.
- 基因检测发现了CoQ8A基因中的突变.
主要成果:
- 该患者被诊断为由于CoQ8A突变导致的初级CoQ10缺乏症.
- 对常见的神经和自身免疫性疾病的初步调查结果是负面的.
- 患者的症状,包括类似中风的情节,归因于CoQ10缺乏.
结论:
- 主要的CoQ10缺乏症可以在成年时异常呈现,具有神经学表现.
- 诊断延迟是常见的,因为这种情况的罕见性和各种表现.
- 对于CoQ10缺乏症患者来说,早期诊断和治疗至关重要,即使是在晚发病的情况下也是如此.
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