Benbrahim Fatima Zohra, El Haddad Siham, Allali Nazik, Chat Latifa
Department of Radiology, Children Hospital of Rabat, Ibn Sina University Hospital, Mohammed V University, Rabat, Morocco.
Radiol Case Rep. 2024 Sep 25;19(12):6347-6353. doi: 10.1016/j.radcr.2024.08.159. eCollection 2024 Dec.
Mitochondrial myopathy with lactic acidosis and stroke-like episodes is a rare mitochondrial disorder, most often revealed by symptoms and signs that typically include mitochondrial myopathy, encephalopathy with stroke-like episodes, seizures and/or dementia, and lactic acidosis. Imaging findings, although diverse, usually present characteristic features that help differentiate these disorders from vascular syndromes. We present a case of a 2-year and 4-month-old girl with recurrent ischemic strokes associated with nonterritorial cortico-subcortical foci on brain imaging, along with stenosis of the terminal portion of the internal carotid arteries associated with a neovascular network. An elevated serum lactate level was found in the biological assessment. This article provides an overview of the various neuroimaging modalities available and the advent of new imaging techniques used in these disorders. It highlights the importance of considering a diagnosis of hereditary mitochondrial disorder in the presence of recurrent atypical stroke-like episodes when neuroimaging is inconsistent with ischemic infarction and reports an exceptional association with Moyamoya syndrome.
伴有乳酸性酸中毒和卒中样发作的线粒体肌病是一种罕见的线粒体疾病,最常见的症状和体征通常包括线粒体肌病、伴有卒中样发作的脑病、癫痫发作和/或痴呆以及乳酸性酸中毒。影像学表现虽然多样,但通常呈现出有助于将这些疾病与血管综合征相鉴别的特征。我们报告一例2岁4个月大的女孩,其脑部影像学显示有与非区域皮质 - 皮质下病灶相关的复发性缺血性卒中,同时伴有颈内动脉末端狭窄并伴有新生血管网络。在生物学评估中发现血清乳酸水平升高。本文概述了可用的各种神经影像学检查方法以及用于这些疾病的新成像技术的出现。它强调了在神经影像学与缺血性梗死不一致且存在复发性非典型卒中样发作时,考虑遗传性线粒体疾病诊断的重要性,并报告了与烟雾病综合征的罕见关联。