线粒体脑肌病伴高乳酸血症和卒中样发作的临床及中枢神经影像学特点  

Clinical features and central nerve imaging analysis in mitochondrial myopathy,encephalopathy,lactic acidosis and stroke-like episodes

作　　者：李鸿皓[1] 刘淑萍[1] 焉传祝[1] 李伟[1] 赵玉英[1] 吴金玲[1] 李大年[1] 

机构地区：[1]山东大学齐鲁医院神经内科,济南250012

出　　处：《山东大学学报（医学版）》2008年第10期998-1001,共4页Journal of Shandong University:Health Sciences

摘　　要：目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作(MELAS)的临床与神经影像学特点,分析其诊断及鉴别诊断价值。方法回顾性分析经肌肉活检证实的28例MELAS患者的临床表现及其计算机断层扫描(CT)、磁共振成像(MRI)、磁共振血管成像(MRA)和质子磁共振光谱分析(MRS)的中枢神经影像学特点。结果临床主要表现为头痛、抽搐、卒中样发作、视力及听力障碍、运动不耐受和智力下降。CT表现为基底节区的钙化和卒中区低密度灶,MRI表现为双侧或单侧大脑皮质和皮质下的长T1、长T2信号影,与血管分区不符,可有波动性,伴有脑室扩大和脑萎缩。枕颞叶最常累及,其次为额顶叶,另外其它部位也见受累,以小脑多见。MRS可见病变区域乳酸峰值明显升高,天冬氨酸峰值降低,中心较外周显著。结论根据上述临床和影像学特点,可对MELAS综合征进行早期诊断和鉴别诊断,肌活检可进一步确诊。Objectiv To explore the clinical features and neuro-imaging features in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Methods The clinical manifestation and neuro-imaging features of CT, MRI, MRA and MRS in 28 patients who were confirmed with MELAS syndrome by muscle biopsy were analyzed. Results The clinical manifestations were migraine-like headache, seizures audio-visual deficit, strokes, cognitive regression and muscle weakness. Basal ganglia calcifications and low density lesions in the stroke-like area were found by CT. Unilateral or bilateral multifocal lesions which had T1 and T2 prolongation with widening ventricles and cerebral atrophy were found by MRI, and they had no definite vascular territories but tended to fluctuate. The temporal and occipital lobes were most often involved and parietal and frontal lobes were secondary. Other parts such as thalami cerebellum and hippocampns can also be involved in which the cerebellum was most often. By MRS, a significant increase of Lac and a decrease of NAA were found, which was more significant in the centre area of the lesion than in the surrounding area. Conclusion MELAS syndrome can be diagnosed and differentially diagnosed based on features of chnical manifestations and neuro-imaging, also it can be certified by muscle biopsies.

关 键 词：线粒体脑肌病伴高乳酸血症和卒中样发作 磁共振成像 体层摄影术 X线计算机 

分 类 号：R742[医药卫生—神经病学与精神病学]