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报告3例线粒体脑肌病MELAS型患者的临床资料及病理特点。其中2例为一家系兄妹2人,另1例为散发。临床表现有头痛、以癫癎为主的卒中样发作、轻偏瘫,同向偏盲、智力减退。颅CT示顶枕部稍低密度片状影,其中1例双基底节钙化。MRI示颞、顶、枕叶多发性呈层性改变的长T_1、长T_2异常信号。1例死于癫(疒间)大发作,生前行脑活检,病理所见病灶区神经细胞变性、减少和脱失,胶质增生和血管增多。另外2例血乳酸水平异常升高,肌活检见不整红纤维。诊断符合线粒体脑肌病MELAS型。对临床表现、影像学、肌肉和脑活检等进行讨论。
Report of 3 cases of mitochondrial encephalomyopathy MELAS type of clinical data and pathological features. Two of them were one sibling and two siblings, the other one was distributed. Clinical manifestations of headache, epilepsy-based stroke-like episodes, hemiparesis, with the same hemianopia, mental retardation. CT showed the top of the skull CT slightly lower density sheet shadow, including 1 case of double basal ganglia calcification. MRI showed temporal, top, occipital lobe multiple layers of change in long T 1, T 2 abnormal signal. One patient died of epilepsy (epilepsy), and biopsy was performed before his birth. The degeneration, loss and loss of nerve cells in pathological lesions, glial hyperplasia and blood vessels increased. Another 2 cases of abnormal increase in blood lactate, muscle biopsy see the whole red fiber. Diagnosis consistent with mitochondrial encephalomyopathy MELAS type. Discuss clinical manifestations, imaging, muscle and brain biopsies.