Kyriacou K, Mikellidou C, Hadjianastasiou A, Middleton L, Panousopoulos A, Kyriakides T
Department of Electron Microscopy and Molecular Pathology, Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Ultrastruct Pathol. 1999 May-Jun;23(3):163-70. doi: 10.1080/019131299281662.
Mitochondrial encephalomyopathies (MEs) are a heterogeneous group of multisystem disorders with extreme variability in clinical phenotype. Due to their complex nature, accurate diagnosis requires a coordinated approach, based on clinical and various laboratory data. Despite the introduction of biochemical assay of mitochondrial enzymes and the availability of mtDNA mutation analysis, the diagnosis of MEs still relies heavily on morphological methods. The latter include histology, histochemistry, and electron microscopy. A comparative study was undertaken to define the contemporary role of electron microscopy in the morphological diagnosis of MEs. Muscle biopsies from 20 patients with MEs, 9 children and 11 adults, were evaluated by histology, enzyme histochemistry, and electron microscopy. The results clearly demonstrate that electron microscopy is of importance in providing essential diagnostic information in pediatric patients, but is of lesser value in the diagnosis of adult cases, where it provides only supplementary information.
线粒体脑肌病（MEs）是一组异质性的多系统疾病，临床表型具有极大的变异性。由于其性质复杂，准确诊断需要基于临床和各种实验室数据的协同方法。尽管引入了线粒体酶的生化检测方法以及mtDNA突变分析技术，但MEs的诊断仍严重依赖形态学方法。后者包括组织学、组织化学和电子显微镜检查。进行了一项比较研究，以确定电子显微镜在MEs形态学诊断中的当代作用。对20例MEs患者（9名儿童和11名成人）的肌肉活检组织进行了组织学、酶组织化学和电子显微镜检查。结果清楚地表明，电子显微镜在为儿科患者提供重要诊断信息方面具有重要意义，但在成人病例的诊断中价值较小，在成人病例中它仅提供补充信息。
