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单个大规模线粒体DNA缺失综合征的神经成像特征

Tamer Sobeh^1,2, Tal Granek^3,4, Omer Bar-Yosef^3,4

¹Sheba Medical Center, Ramat Gan, Israel. tamer.sobeh@gmail.com.

|July 10, 2025

概括

在单个大规模线粒体DNA缺失综合征 (SLSMDSs) 中的神经成像经常显示背部脑干,小脑和基底腺的参与. 这些MRI发现,包括扩散变化,可以帮助诊断和监测这些罕见的线粒体疾病.

科学领域:

神经学神经学
放射学放射学是指放射学
线粒体遗传学线粒体遗传学

背景情况:

单个大规模线粒体DNA缺失综合征 (SLSMDSs) 涵盖了一系列罕见的线粒体疾病,包括皮尔森综合征和凯恩斯-赛尔综合征.
在SLSMDS中神经成像的发现没有得到充分的记录,这限制了它们在诊断和疾病进展监测中的有用性.
描述神经成像模式对于理解SLSMDSs的病理生理学和临床过程至关重要.

研究的目的:

描述SLSMDS患者的临床特征.
分析神经成像发现,包括MRI,光谱和扩散成像,在被诊断为SLSMDS的患者中.
评估神经成像在SLSMDSs诊断和监测中的作用.

主要方法:

在2013年至2024年期间在第三级推中心诊断的11名SLSMDS患者的回顾性审查.
分析临床,遗传和神经成像数据,包括各种大脑区域的MRI扫描.
对MRI检查白质,基底,乳头,大脑体,小脑和大脑干的异常进行审查.

主要成果:

在11名患者中有4名的MRI正常. 在剩余的7个中,对称的T2/FLAIR高强度是常见的,特别是在背部脑干 (7/7) 和小脑 (6/7) 中.
经常观察到全球白卷入 (6/7) 和扩散变化,这表明代谢损伤.
核磁共振光谱检测显示,在3/7患者中乳酸水平升高;在3名患者中观察到白质异常与周周节省. 连续成像显示,4名患者的病情进展.

结论:

在SLSMDS中神经成像通常显示背部脑干,小脑和基底的特征性参与,扩散变化表明代谢损伤.
皮层下白质参与的模式,省略周周结膜区域,可能有助于区分SLSMDS与其他疾病.
包括扩散成像和光谱在内的MRI对于支持诊断和实现SLSMDS的纵向监测是有价值的,尽管在早期或较轻的病例中可以进行正常成像.

关键词:

大脑干异常脑干异常扩散式核磁共振成像 (MRI)磁共振光谱学磁共振光谱学单个大规模的线粒体DNA缺失综合征

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