Piccolo G, Cosi V, Poloni M, Moglia A, Marchetti C, Scelsi R
Schweiz Arch Neurol Neurochir Psychiatr. 1982;131(2):161-74.
Clinical, histochemical and ultrastructural findings concerning 14 cases with diagnosis of Chronic Progressive External Ophthalmoplegia are described. According to the clinical features the patients have been rated in two groups: the first including subjects with isolated ptosis or ptosis with external ophthalmoplegia and the second including subjects with a spreading of the muscular deficit and involvement of the neck and limbs. The most frequent histological and histochemical features are type I fibre atrophy, ragged-red fibres, DPNH-diaphorase reaction disorders and abnormal accumulation of lipids into the fibres. Electron microscopy reveal myofibrillar disorganization and clusters of polymorphous, abnormal mitochondria. In five cases mitochondria contain a variety of crystalline inclusions. Correlations between clinical data and histochemical and ultrastructural findings are discussed. Mitochondrial abnormalities are postulated to be a characteristic physiopathological pattern in CPEO.
描述了14例诊断为慢性进行性眼外肌麻痹患者的临床、组织化学和超微结构研究结果。根据临床特征，患者被分为两组：第一组包括仅有上睑下垂或伴有眼外肌麻痹的上睑下垂患者；第二组包括肌肉功能障碍扩展至颈部和四肢的患者。最常见的组织学和组织化学特征为I型纤维萎缩、破碎红纤维、DPNH-黄递酶反应异常以及纤维内脂质异常蓄积。电子显微镜检查显示肌原纤维排列紊乱以及多形性异常线粒体聚集。5例患者的线粒体含有多种结晶样包涵体。讨论了临床数据与组织化学和超微结构研究结果之间的相关性。线粒体异常被认为是慢性进行性眼外肌麻痹的特征性病理生理模式。
