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目的探讨MELAS(mitochondrialencphalomyopathywithlacticacidemiaandstroke-likeepisodes)的临床与骨骼肌病理变化。方法4例病人经临床检查、影像学检查、血乳酸、肌电图及骨骼肌病理检查。结果MELAS的临床表现复杂,可以表现为卒中样发作、偏头痛、智能减退、身材矮小、血乳酸增高、神经性耳聋等。MGT染色可见典型或不典型RRF,SDH染色可见肌间小血管深染。结论MELAS临床诊断困难,且容易误诊,骨骼肌活检可以明确诊断。
Objective To investigate the clinical and skeletal muscle pathological changes of MELAS (mitochondrialencphalomyopathywithlacticacidemia and stroke-like episodes). Methods Four patients underwent clinical examination, imaging examination, blood lactic acid, electromyography and skeletal muscle pathology. Results The clinical manifestations of MELAS were complex and could be characterized as stroke-like episodes, migraine, hypo-asthma, short stature, increased blood lactate, and neurological deafness. MGT staining showed typical or atypical RRF, SDH staining can be seen in the deep intermuscular small vessels. Conclusion The clinical diagnosis of MELAS is difficult and misdiagnosed, skeletal muscle biopsy can confirm the diagnosis.