MELAS综合征的交叉小脑缺血1例报告。

IF 2.7 3区 医学 Q3 NEUROSCIENCES
Ivana Karla Franić, Andreja Bujan Kovač, Branko Malojčić
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引用次数: 0

摘要

线粒体脑肌病,乳酸酸中毒和卒中样发作(MELAS)是一种罕见的遗传性疾病从线粒体疾病的频谱。最常见的表现是中风样症状、癫痫发作、脑病和肌病。由于它主要影响代谢活跃的器官,可引起心肌病、糖尿病等。我们报告一例年轻的男性患者遗传证实MELAS谁有周期性全身性强直-慢性癫痫发作的历史,然后发展为复发性短暂性感觉异常的右肢体,语言障碍和失用症。在检查中,全身性强直阵挛发作后的MRI显示右小脑半球灌注不足和水肿,这是由左岛皮质对侧大脑急性缺血性病变引起的,并产生了最初的症状。这个有趣的发现被称为交叉小脑分裂(CCD)。CCD是一种罕见的实体,指的是由于对侧大脑病变导致小脑半球代谢、灌注和整体功能下降。在远离初始脑损伤部位的区域功能障碍是可能的,因为这两个区域通过纤维束连接。这种病理最常见于缺血性中风,也见于癫痫发作、幕上肿瘤、脑炎等。我们的病人继续有反复的偶尔的一过性右肢感觉异常,但后续的MRI显示左大脑皮层的高信号完全消退,右脑半球水肿。在本文中,我们报告了一种罕见的神经影像学发现,如CCD,共存于罕见的脑血管疾病患者。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Crossed Cerebellar Diaschisis in a Patient with MELAS Syndrome: A Case Report.

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.

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来源期刊
Cerebellum
Cerebellum 医学-神经科学
CiteScore
6.40
自引率
14.30%
发文量
150
审稿时长
4-8 weeks
期刊介绍: Official publication of the Society for Research on the Cerebellum devoted to genetics of cerebellar ataxias, role of cerebellum in motor control and cognitive function, and amid an ageing population, diseases associated with cerebellar dysfunction. The Cerebellum is a central source for the latest developments in fundamental neurosciences including molecular and cellular biology; behavioural neurosciences and neurochemistry; genetics; fundamental and clinical neurophysiology; neurology and neuropathology; cognition and neuroimaging. The Cerebellum benefits neuroscientists in molecular and cellular biology; neurophysiologists; researchers in neurotransmission; neurologists; radiologists; paediatricians; neuropsychologists; students of neurology and psychiatry and others.
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