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丙酮酸脱氢酶缺乏症中的类中风事件本质上是缺血性的、代谢性的,还是两者皆有?

Are stroke-like events in pyruvate dehydrogenase deficiency ischemic, metabolic, or both in nature?

作者信息

Sounira Mehri, Finsterer Josef

机构信息

Biochemistry Laboratory, LR12ES05 "Nutrition-Functional Foods and Vascular Health", Faculty of Medicine, Monastir, Tunisia.

Neurology & Neurophysiology Censer, Vienna, Austria.

出版信息

Neurol Sci. 2025 May;46(5):2337-2338. doi: 10.1007/s10072-024-07927-5. Epub 2024 Dec 10.

DOI:10.1007/s10072-024-07927-5
PMID:39656382
Abstract

The interesting article by Fecarotta et al. reports a 6-year-old female with pyruvate dehydrogenase (PDHC) deficiency due to the variant c.869 A > C in PDHA1, which manifested phenotypically itself with microcephaly, developmental delay, lactic acidosis, global cerebral atrophy, and subependymal gliosis lateral to the left ventricle. At the age of 6, the patient suffered acute-onset right hemiparesis, which was attributed to a stroke-like lesion (SLL) in the left cerebral peduncle. However, there are some arguments against a SLL in the index patient. First, SLLs have not yet been reported in PDHC, Second, the lesion shown in Fig. 1 does not meet the criteria for SLL. Third, the authors themselves speculate the hyperintense DWI lesion in the right globus pallidus may represent hyperperfusion. Before a peduncular DWI hyperintensity can be interpreted as SLL, ischemic stroke must be thoroughly ruled out.

摘要

费卡罗塔等人撰写的这篇有趣的文章报道了一名6岁女性,因丙酮酸脱氢酶(PDHC)缺乏症,该病症由PDHA1基因中的c.869 A>C变异引起,其表型表现为小头畸形、发育迟缓、乳酸酸中毒、全脑萎缩以及左心室旁室管膜下胶质增生。6岁时,该患者突发急性右半身轻瘫,这归因于左侧大脑脚的类中风病变(SLL)。然而,对于该索引患者存在一些反对将其诊断为SLL的观点。首先,PDHC中尚未有SLL的报道;其次,图1所示病变不符合SLL的标准;第三,作者自己推测右侧苍白球的弥散加权成像(DWI)高信号病变可能代表高灌注。在将大脑脚DWI高信号解释为SLL之前,必须彻底排除缺血性中风。

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本文引用的文献

1
Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1.
Neurol Sci. 2024 Jun;45(6):2913-2914. doi: 10.1007/s10072-024-07355-5. Epub 2024 Jan 30.
2
Characteristics of stroke-like lesions on cerebral imaging.脑影像学上的卒中样病灶特征。
Ideggyogy Sz. 2023 Jan 30;76(1-2):5-10. doi: 10.18071/isz.76.0005.
3
Novel imaging findings in pyruvate dehydrogenase complex (PDHc) deficiency-Results from a nationwide population-based study.丙酮酸脱氢酶复合物(PDHc)缺陷的新影像学发现-基于全国人群的研究结果。
J Inherit Metab Dis. 2022 Mar;45(2):248-263. doi: 10.1002/jimd.12463. Epub 2021 Dec 17.
4
Inherited Metabolic Causes of Stroke in Children: Mechanisms, Types, and Management.儿童中风的遗传代谢病因:机制、类型及管理
Front Neurol. 2021 Mar 4;12:633119. doi: 10.3389/fneur.2021.633119. eCollection 2021.