MELAS型线粒体脑肌病1例临床病理

The Clinical and Pathological Manifestations of MELAS Type Mitochondrial Encephalomyopathy in One Patient

目的分析1例MELAS型线粒体脑肌病的临床病理特点。方法对该患者的临床、实验室、影像学及肌肉病理特点进行回顾性分析。结果血和脑脊液乳酸高,头颅CT、MRI显示病灶局限于颞顶枕部,肌肉活检证实患者的骨骼肌存在大量典型的不整边红纤维。结论对年轻患者反复表现为卒中样发作、局限性或全面性癫痫,病灶局限于颞顶枕部,应行肌肉活检,避免误诊。

Objective To analyze the clinical and pathological characteristics of one patient with the MELAS type mitochondrial encephalomyopathy as to investigate the diagnostic rules of the disease. Methods The clinical findings ,laboratory examinations, image manifestations and muscle pathology were retrospectively analyzed. Results The lactic acid levels in blood and cerebral-spinal fluid were high, CT and MRI showed the restricted lesions in the temporal、 parietal and occipital lobes, muscle biopsy showed lots of typical ragged-red fibers. Conclusion The younger patients suffered from stroke-like episodes, focal or generalized seizures and whose neuroimage showed the restricted lesions in the temporal、 parietal and occipital lobes should have muscle biopsy to avoid misdiagnosis.