线粒体细胞病临床表现和肌肉组织超微结构特征

Clinical characteristics and ultra-structural features of skeletal muscle in mitochondrial cytopathies

目的探讨线粒体细胞病肌肉组织超微结构特征及其诊断价值。方法对33例线粒体细胞病的肌肉标本进行了系统的常规病理学和电镜超微结构观察。结果主要病理学改变为：改良Gom06染色可见破碎红边纤维，SDH染色可见深染肌纤维，COX／SDH双重染色可见COX浅染而SDH深染肌纤维。电镜观察可见肌膜下、肌原纤维之间线粒体数量增多，线粒体结构异常，晶格状包涵体，线粒体嵴呈同心圆样板层排列，肌膜下糖脂复合物数量增多。结论发现数量增多而且结构异常的线粒体、电子致密的线粒体颗粒和晶格样包涵体，可提供支持诊断的证据。

Objective To investigate the ultrastructural features of mitochondrial cytopathies and its diagnostic value. Methods Muscle biopsy specimens from 33 cases of mitochondrial cytopathies were examined by routine pathological and electron microscopic examinations. Results The main pathologic changes included ragged red fibers in modified Gomori staining, hyper-intense staining myofibers in SDH, COX-negative fibers while dark counterstaining with SDH in COX/SDH double staining technique. Ultrastructural findings included subsarcolemmal and intramyofibrillar proliferation of mitochondria and the appearance of abnormal mitochondria, paracrystalline inclusions, concentric dystrophic cristae and excessive subsarcolemmal glycolipid compounds in subsarcolemmal. Conclusion The presences of proliferation and abnormality of mitoehondria, electro-dense granule and paraerystalline inclusions in mitoehondria provide key diagnostic evidence for the diagnosis of this disease.