MELAS综合征的临床、病理和动态影像学表现  

Clinical, pathological and dynamic imaging findings of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

作　　者：贾守强[1] 张颖颖[1] 李莹[1] 解丙坤[2] 王敏[2] 

机构地区：[1]泰山医学院附属莱芜医院影像中心, 莱芜271100 [2]泰山医学院在读硕士研究生,泰安271000

出　　处：《中华神经医学杂志》2012年第8期842-846,共5页Chinese Journal of Neuromedicine

摘　　要：目的探讨线粒体脑肌病伴乳酸血症和脑卒中发作（MELAS综合征）的临床、病理和动态影像学表现特点。方法回顾性分析经肌肉活检病理证实的10例MELAS综合征患者的临床、病理及动态影像学资料。结果MELAS综合征患者的主要临床表现为头痛、癫痫、恶心呕吐、眼球震颤、视力障碍。CT显示病变较差，MR能清晰显示病变，病变多位于颞叶、顶叶、枕叶皮层及皮层下，呈脑回状，具有多灶性、非对称性、游走性、不按血管分布特点，MRA多无明显血管狭窄，病变区呈现高灌注和血管源性水肿，MRS可见乳酸（Lac）峰。肌肉病理活检光镜下显示破碎红纤维、强阳性血管，电镜下见线粒体数量增多、大小和形态异常。结论MELAS综合征的临床和影像学表现具有一定特点，结合肌肉病理活检可对该病进行早期诊断和鉴别诊断。Objective To investigate the clinical, pathological and dynamic imaging characteristics of patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes （MELAS）. Methods A retrospective analysis was performed on the clinical, pathological and dynamic imaging data of 10 patients with MELAS confirmed by muscle biopsy. Results The clinical manifestations included headache, seizures, nausea, vomiting, nystagmus and visual disturbances. CT showed less lesions, and MRI could clearly show multiple lesions which mainly located in the temporal, parietal, occipital cortex and sub-cortex, having multifocal, asymmetric, migratory characteristics and not following the distribution of blood vessels. MRA showed no significant stenosis, and the lesion showed hyperperfusion and vasogenic edema, and Lac peak was visible. Muscle biopsy showed ragged red fiber optical microscope （RRF） and strongly SDH-reactive vessel （SSV）, and electron microscope showed increased mitochondria number, and abnormal size and shape. Conclusion MELAS has certain clinical and imaging characteristics; by combining the muscle biopsy, we can diagnose the disease early and make differential diagnosis.

关 键 词：MELAS综合征 影像学 病理特征 

分 类 号：R445.2[医药卫生—影像医学与核医学]