摘要
目的探讨线粒体脑肌病的临床、肌肉病理及神经电生理特点,以便早期诊断。方法对6例确诊的线粒体脑肌病患者的临床表现、肌肉组织光镜和超微结构改变以及神经电生理改变进行了回顾性分析。结果本组患者的临床特征主要以运动不耐受,阵挛、抽搐发作,精神障碍,共济失调为主。6例患者中4例发现破碎红纤维(RRF),其平均比例为5.3%;超微结构观察有线粒体异常及糖原颗粒沉积,其中有2例发现有典型晶格状包涵体。以癫痫间发作为主要临床表现的患者脑电图明显异常;肌电图以神经源性改变4例,占本组病例的4/6;听觉诱发电位(BAEP)、体感诱发电位(SEP)异常3例,占3/6。结论线粒体脑肌病的临床表现复杂多样,诊断主要依赖于临床特征分析和肌肉活检;电镜超微结构改变为线粒体病的主要诊断依据;神经电生理改变对病理损伤累及范围和程度方面有一定的参考价值。
Objective To analysis the clinical.pathologic and electroneurophysiologic features of patients with mitochondrial encephalomyopathy for early diagnosis. Methods Six cases of mitochondrial encephalomyopathy were retrospectively studied in term of clinical featuers, histochemical changes, ultrastructure observations of muscles.electroencephalogram.electromyography and evoked potential. Results The average proportion of RRF was 5.3% in 4 cases, and glycogen granule deposition and crystal include bodies in 2 cases. The EEG abnormalities was seen in patients with epilepsy; EMG abnormalities was found in 4 cases. The abnormalities of auditory evoked potentials and somatosensory evoked potentials were found in 3 cases. Conclusions The above complex clinical manifestations, pathology and electroneurophysiology were all proved to be very important features in mitochondrial encephalomyopathy.
出处
《卒中与神经疾病》
2007年第1期28-31,共4页
Stroke and Nervous Diseases
关键词
线粒体脑肌病
诊断
临床
病理学
神经电生理
Mitochondrial encephalomyopathy Diagnosis Clinic Pathobiology Electroneurophysiology
