CAJ | 학술논문

目的：探讨以反复发热、头痛为主要临床表现的线粒体脑肌病患者的病理及影像学特征。方法选取1例临床确诊的线粒体脑肌病伴高乳酸血症和卒中样发作（mitochondrial encephalomyopathy ，lactic acidosis ，and strokelike episode ， MELAS）患者，调查其发病情况、家族史、病理及影像学特征进行研究。结果该患者18岁起病，2a病程，临床主要表现为反复出现的发热、头痛，类似轻型病毒性脑炎表现。磁共振平扫及血管成像（MRA）发现枕叶异常信号，呈此消彼长的变化特征；乳酸测定发现空腹乳酸明显增高。左侧肱二头肌开放式肌肉活检：光镜下可见大量破碎红纤维。结论临床上貌似病毒性脑炎的年轻患者应注意和MELAS相鉴别，磁共振和开放式肌肉活检是确诊该病的关键措施。
목적：탐토이반복발열、두통위주요림상표현적선립체뇌기병환자적병리급영상학특정。방법선취1례림상학진적선립체뇌기병반고유산혈증화졸중양발작（mitochondrial encephalomyopathy ，lactic acidosis ，and strokelike episode ， MELAS）환자，조사기발병정황、가족사、병리급영상학특정진행연구。결과해환자18세기병，2a병정，림상주요표현위반복출현적발열、두통，유사경형병독성뇌염표현。자공진평소급혈관성상（MRA）발현침협이상신호，정차소피장적변화특정；유산측정발현공복유산명현증고。좌측굉이두기개방식기육활검：광경하가견대량파쇄홍섬유。결론림상상모사병독성뇌염적년경환자응주의화MELAS상감별，자공진화개방식기육활검시학진해병적관건조시。
Objective To study the clinical and pathological characteristics of mitochondrial encephalomyopathies.Methods Comprehensive analysis of the characteristics of clinical ,laboratory and pathological of a patient with MELAS was carried out.Results The biopsy in the skeletal muscle showed ragged red fiber and abnormal mitochondria.The blood lactic acid con‐centration was higher apparently.Abnormal occipital lobe lesions appeared in MRI.Conclusion It is difficult to diagnose mito‐chondrial encephalomyopathies with recurrent fever and headache ,while skeletal muscle biopsy and pathological analysis is a trustworthy measure for the definite diagnosis of mitochondrial encephalomyopathies.