MELAS综合征八例

目的探讨MELAS综合征(线粒体脑肌病伴乳酸血症和卒中样发作)的临床特征,为早期诊断和治疗提供参考。方法对8例确诊的MELAS综合征患者的临床表现、肌活检病理及影像学资料进行回顾性分析。结果头痛、抽搐、运动耐受差、智能障碍、脑卒中样发作、血乳酸水平升高为本组患者的主要临床表现。8例患者脑内病灶均表现为T1WI低信号、T2WI高信号,病变主要累及额、颞、顶、枕叶皮层、皮层下及基底节,伴有不同程度的脑萎缩,病灶多发且与血管分布区不一致。8例患者行肌肉活检可见破碎红纤维(RRF)、异常线粒体增多。结论 MELAS综合征临床表现复杂多样,确诊依赖于临床特征分析和肌肉活检。磁共振成像在线粒体脑肌病的诊断、鉴别诊断方面具有一定的价值。

The studies on clinical manifestations, histopathology and imaging of MELAS

Objective To study the clinical characteristic of MELAS syndrome as to offering evidences of early diagnosis and treatment.Methods The clinical features of 8 cases of MELAS syndrome were retrospectively analyzed.Results The most frequent clinical manifestations were headache,fatigue or movement intolerance,mental impairment,stroke-like episodes and lactic acidosis,all cases with MELAS syndrome showed low signal intensity on T1WI and high signal intensity on T2WI,the lesions involved the cortical layer of the temporal,parietal and occipital lobe and the basal ganglia.The distribution of the lesions was multiple and the location was not corresponding with the vascular supply territories.Muscle biopsy showed red ragged fibers and abnormal mitochondria in all cases.Conclusion The above complex clinical manifestations,pathology and MRI check were all proved to be very important features in the early diagnosis and differential diagnosis of MELAS syndrome.