期刊文献+

慢性进行性眼外肌麻痹2例报道及文献复习 被引量:3

Mitochondrial encephalomyopathy: a report of 2 cases and review of literature
下载PDF
导出
摘要 目的 探讨慢性进行性眼外肌麻痹 (CPEO)的临床病理特征。方法 应用光镜、电镜和酶组织化学对 2例CPEO肌肉活检标本进行形态学观察。结果 HE染色肌组织中见散在分布的 ,多少不等的嗜盐基性肌纤维。在改良GOMORI三色染色上 ,这些嗜盐基性肌纤维边缘由于呈现不规则红色 ,即称不整边红纤维或破碎红纤维。细胞色素氧化酶 (CCO)和琥珀酸脱氢酶 (SDH)双染色 ,阳性的蓝色纤维与不整边红纤维的分布一致 ,数量也较改良GOMORI三色染色增多。结论 改良GO MORI三色染色应作为诊断线粒体疾病的常规染色 。 Purpose To investigate the clinical pathologic features of chronic progressive external ophthalmoplegia (CPEO). Methods Two muscle biopsies cases of CPEO were examined by light microscopy, electron microscopy and enzyme histochemistry. Results Routine stains showed scattered dark ‘ragged red fibers’ (RRF). These fibers showed a ragged-red on modified gomori trichrome, and markedly increase in oxidative enzyme activity by double stains of cytochrome-c oxidoreductase (CCO) and succinate dehydrogenase (SDH)). Conclusions Modified Gomori trichrome stains should be a routine stain. Double stains of CCO/SDH may be valuable for making diagnosis of mitochondrial diseases.
出处 《临床与实验病理学杂志》 CAS CSCD 2004年第6期692-694,共3页 Chinese Journal of Clinical and Experimental Pathology
关键词 线粒体脑肌病 慢性进行性外侧眼肌麻痹 活组织检查 病理特征 酶组织化学 电镜 mitochondrial encephalomyopathies chronic progressive external ophthalmoplegia biopsy
  • 相关文献

参考文献9

  • 1Dubowitz V. Muscle biopsy: a practical approach. 2nd ed,London: Bailliere Tindall, 1985: 504~9. 被引量:1
  • 2Wallace DC. Mitochondrial senescence:a paradigm for aging and degenerative disease? Science, 1992,256: 628~32. 被引量:1
  • 3Jinnai K, Yiroyuki Y, Kanda F, et al. A case of mitochondrial myopathy, encephalopathy and lactic acidosis due to cytochrome Coxidáse deficiency with neurogenic muscular changes. Eur Neurol, 1990,30:56~60. 被引量:1
  • 4Rummelt V, Folber R. Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. Ophthalmology, 1993,100:1751~66. 被引量:1
  • 5McKelvie PA, Morley JB, Byrne E, et al. Mitochondrial encephalomyopathies: A correlation between neuropathological finding and defects in mitochondrial DNA. J Neurol Sci, 1991,102:51~60. 被引量:1
  • 6Takdea S, Wakabayashi K, Ohama E, etal. Neuropathology of myocolonus epilepsy with ragged-red fibers(Fukuhara disease).Acta Neuropathol(Berl), 1988,75: 433 ~40. 被引量:1
  • 7Franco E, Bautista J, Luque R, et al. Mitochondrial encephalomyopathy of late presentation with progressive ophthalmoplegia,tremor and diffuse leukoencephalopathy. Neurologia, 1999,14(9) :463~6. 被引量:1
  • 8Carta A, D'Adda T, Carrara F, et al. Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. Arch Ophthalmol, 2000,118:1441~5. 被引量:1
  • 9L' Heveder LG, Penission-Besnier I, Klein J, et al. Mitochondrial ocular myopathy sensitive to anticholinesterase agents.PresseMed, 1993,22(3) : 130. 被引量:1

同被引文献24

  • 1陈亚娟,孙秀清.线粒体脑肌病的临床特点及误诊原因分析[J].临床误诊误治,2005,18(3):199-200. 被引量:2
  • 2张炳峰,王震,牛琦.线粒体脑肌病患者线粒体DNA突变分析[J].医学研究生学报,2005,18(11):989-991. 被引量:5
  • 3王岩,徐丽,刘驰,庄晓彤.慢性进行性眼外肌麻痹1例[J].眼科新进展,2006,26(5):366-366. 被引量:1
  • 4Schon, E.A., Rizzuto, R., Moraes, C. T., et al. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA[J]. Science, 1989, 244 (4902): 346. 被引量:1
  • 5Anderson, S., Bankier, A.T., Barrell, B.G., et al. Sequence and organization of the human mitochondrial genome[J]. Nature, 1981, 290 (5806): 457-465. 被引量:1
  • 6Wallace, D.C., Lott, M.T., Brnwn, M.D., et al. Mitoehondria and neuro-ophthalmologic diseases[J]. The metabolic and molecular basis of inherited disease, 2001: 2425-2509. 被引量:1
  • 7Holt, I.J., Harding, A.E. and Morgan-Hughes, J.A. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies [J]. Nature, 1988, 331 (6158):717-719. 被引量:1
  • 8Couher-Mackie, M.B., Applegarth, D.A., Toone, J.R., et al. A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion[J]. Clin Biochem, 1998, 31 (8) : 627-632. 被引量:1
  • 9Kawai, H., Akaike, M., Yokoi, K., et al. Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases[J]. Muscle Nerve, 1995, 18 (7): 753- 760. 被引量:1
  • 10McDonald, D.G., McMenamin, J.B., Farrell, M.A., et al. Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion[J]. Am J Med Genet, 2002, 111 (2): 191-194. 被引量:1

引证文献3

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部