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Nicole Hammann¹, Dominic Lenz¹, Alyssa Bianzano¹

¹Medical Faculty, University Hospital Heidelberg, Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg University, Heidelberg, Germany.

Journal of inherited metabolic disease

|July 2, 2024

概括

氨基氨基酸tRNA合成酶1 (LARS1) 缺乏导致严重的婴儿肝功能衰竭和神经问题. 深灰质和脑干MRI变化是LARS1缺陷中的脑病变的特征,与其他代谢障碍不同.

科学领域:

遗传学和神经学遗传学和神经学
儿科医学儿科医学
代谢障碍代谢障碍代谢障碍

背景情况:

氨基氨基酸tRNA合成酶1 (LARS1) 缺乏症,也被称为婴儿肝衰竭综合征1型 (ILFS1),呈现出复杂的多系统表型.
这包括经常由发烧引发的急性肝衰竭 (ALF),慢性神经缺陷和反复出现的脑病发作.

研究的目的:

系统地分析LARS1缺陷个体的头骨MRI发现和神经现象.
为了更好地描述脑病发作和相关的神经成像变化.

主要方法:

一个回顾性分析35个部MRI扫描从13个被诊断为LARS1缺乏症的个人.
核磁共振成像结果与神经现象型的相关性,包括发育延迟,和脑病发作.

主要成果:

所有的人都表现出发育迟缓,13人中有10人有发作.
脑病发作,通常与感染有关,出现发作和意识丧失,通常在治疗后得到缓解.
在急性脑病变期间的特征性MRI发现包括深灰质和脑干异常,使其与其他代谢性脑病变区分开来.

结论:

在MRI上深灰质和脑干变化是LARS1缺乏症中脑病的特征.
感染,特别是流感,可能会导致严重的发作,这凸显了控制发烧和接种疫苗的重要性.
了解这些特征的神经成像模式有助于诊断和管理LARS1缺乏.

关键词:

一个ILFS1一个ILFS1一个ILFS1 在LARS1中.这就是为什么MRI是MRI.急性肝衰竭是一种严重的肝衰竭.氨基酸-tRNA合成酶的缺陷谷粒河流域的水分区脑病变 - 脑病变是一种脑病变.代谢性中风是代谢性中风.泰拉姆斯 (thalamus) 是一个神经系统.

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