Colombo A, Merelli E, Sola P, Panzetti P, Quaglino D, Fornieri C
Clinica Neurologica, Università di Modena.
Ital J Neurol Sci. 1988 Aug;9(4):385-9. doi: 10.1007/BF02334004.
We report a case of oculoskeletal myopathy with abnormal mitochondria in which the chief clinical feature was ophthalmoplegia. Muscle weakness was mild and there were no retinal or cerebellar abnormalities, no deafness and no cardiac defects. The muscle biopsy specimen revealed subsarcolemmal mitochondrial aggregates and ragged red fibers. Electronmicroscopy showed that the aggregates were made up of mitochondria of variable size with structural abnormalities of the cristae and crystalloid inclusions. We believe that this oculoskeletal myopathy is distinct from Kearn-Sayre syndrome.
我们报告一例伴有线粒体异常的骨肌肉病，其主要临床特征为眼肌麻痹。肌无力症状较轻，无视网膜或小脑异常，无耳聋及心脏缺陷。肌肉活检标本显示肌膜下线粒体聚集及破碎红纤维。电子显微镜检查显示这些聚集物由大小不一的线粒体组成，伴有嵴结构异常及类晶体包涵体。我们认为这种骨肌肉病与卡恩-塞尔综合征不同。
