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一名患有线粒体脑肌病伴乳酸血症和卒中样发作(MELAS)综合征患者的交叉性小脑失联络:病例报告

Crossed Cerebellar Diaschisis in a Patient with MELAS Syndrome: A Case Report.

作者信息

Franić Ivana Karla, Kovač Andreja Bujan, Malojčić Branko

机构信息

Department of Neurology, University Hospital Centre Zagreb, Kišpatićeva 12, Zagreb, 10000, Croatia.

School of Medicine, University of Zagreb, Šalata 3, Zagreb, 10000, Croatia.

出版信息

Cerebellum. 2025 Apr 29;24(4):90. doi: 10.1007/s12311-025-01847-6.

Abstract

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder from a spectrum of mitochondrial diseases. Most commonly it presents with stroke-like symptoms, seizures, encephalopathy and myopathy. As it affects predominantly metabolically active organs, it can cause cardiomyopathy, diabetes mellitus, etc. We report a case of a young male patient with genetically proven MELAS who had a history of periodical generalized tonic-clonic seizures and then developed recurrent transient paresthesia of the right extremities, speech disturbance and apraxia. During work-up, an MRI done after a generalized tonic-clonic seizure showed hypoperfusion and edema in right cerebellar hemisphere caused by the contralateral cerebral acute ischemic lesion in left insular cortex which produced initial symptoms. This interesting finding is called crossed cerebellar diaschisis (CCD). CCD is a rare entity which refers to a decrease in metabolism, perfusion, and overall function in a cerebellar hemisphere because of a contralateral cerebral lesion. The disturbance of the function in an area distant from the location of initial brain lesion is possible because the two areas are connected via fiber tracts. This pathology most commonly occurs after ischemic stroke but also after seizures, supratentorial tumors, encephalitis etc. Our patient continued to have recurrent occasional transient paresthesia of the right extremities, but the follow-up MRI showed complete regression of hyperintensities in the left cerebral cortex and edema in right cerebellar hemisphere. In this paper we report co-existence of a rare neuroradiological finding such as CCD, in patient with rare cerebrovascular disease.

摘要

线粒体脑肌病伴乳酸酸中毒及卒中样发作(MELAS)是一种罕见的遗传性疾病,属于线粒体疾病谱。它最常见的表现为卒中样症状、癫痫发作、脑病和肌病。由于它主要影响代谢活跃的器官,还可导致心肌病、糖尿病等。我们报告一例经基因证实为MELAS的年轻男性患者,该患者有周期性全身强直阵挛发作史,随后出现右上肢反复短暂性感觉异常、言语障碍和失用症。在检查过程中,一次全身强直阵挛发作后进行的MRI显示,右侧小脑半球灌注减低和水肿,这是由左侧岛叶皮质的对侧脑急性缺血性病变引起的,该病变产生了初始症状。这一有趣的发现被称为交叉性小脑神经机能联系失联络(CCD)。CCD是一种罕见的情况,指由于对侧脑部病变导致小脑半球代谢、灌注和整体功能下降。远离初始脑病变部位的区域功能出现障碍是可能的,因为这两个区域通过纤维束相连。这种病理情况最常见于缺血性卒中后,但也可见于癫痫发作、幕上肿瘤、脑炎等之后。我们的患者右上肢仍有反复偶尔的短暂性感觉异常,但后续MRI显示左侧大脑皮质的高信号和右侧小脑半球的水肿完全消退。在本文中,我们报告了在罕见脑血管疾病患者中存在如CCD这样罕见的神经放射学表现。

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