Skip to main content
PMC home page
Journal of Neurology, Neurosurgery, and Psychiatry logoLink to Journal of Neurology, Neurosurgery, and Psychiatry
. 1987 Nov;50(11):1475–1481. doi: 10.1136/jnnp.50.11.1475

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration.

M Yamamoto 1, T Sato 1, M Anno 1, H Ujike 1, M Takemoto 1
PMCID: PMC1032560  PMID: 2826704

Abstract

A male with mitochondrial myopathy, encephalopathy, lactic acidemia, and strokelike episodes is reported. He had also recurrent episodes of ileus. Muscle biopsy revealed ragged-red fibres. The cytochemistry of cytochrome c oxidase (CCO) showed scattered nonstained fibres, while all muscle fibres were heavily stained by immunocytochemistry using CCO antibody. These findings suggest that partical CCO deficiency may be present in the skeletal muscles of the patient. NADH cytochrome c reductase in the patient's muscle mitochondria was low compared with normal controls (about 26%), although succinate cytochrome c reductase was normal. Coenzyme Q10 administration (90 mg/day) did not improve CSF lactate levels, but did decrease plasma lactate levels. His muscle weakness slightly improved.

Full text

PDF
1481

Images in this article

1476Image
on p.1476
1477Image
on p.1477
1478Image
on p.1478

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Allen R. J., DiMauro S., Coulter D. L., Papadimitriou A., Rothenberg S. P. Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate. Ann Neurol. 1983 Jun;13(6):679–682. doi: 10.1002/ana.410130620. [DOI] [PubMed] [Google Scholar]
  2. FOWLER L. R., RICHARDSON S. H., HATEFI Y. A rapid method for the preparation of highly purified cytochrome oxidase. Biochim Biophys Acta. 1962 Oct 8;64:170–173. doi: 10.1016/0006-3002(62)90770-9. [DOI] [PubMed] [Google Scholar]
  3. Goda S., Ishimoto S., Ohnishi A., Goto I., Kuroiwa Y. [Mitochondrial encephalomyopathy: a case with MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)]. Rinsho Shinkeigaku. 1985 Feb;25(2):216–226. [PubMed] [Google Scholar]
  4. Hart Z. H., Chang C. H., Perrin E. V., Neerunjun J. S., Ayyar R. Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia. Arch Neurol. 1977 Mar;34(3):180–185. doi: 10.1001/archneur.1977.00500150066013. [DOI] [PubMed] [Google Scholar]
  5. Holliday P. L., Climie A. R., Gilroy J., Mahmud M. Z. Mitochondrial myopathy and encephalopathy: three cases--a deficiency of NADH-CoQ dehydrogenase? Neurology. 1983 Dec;33(12):1619–1622. doi: 10.1212/wnl.33.12.1619. [DOI] [PubMed] [Google Scholar]
  6. Johnson M. A., Turnbull D. M., Dick D. J., Sherratt H. S. A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia. J Neurol Sci. 1983 Jul;60(1):31–53. doi: 10.1016/0022-510x(83)90125-9. [DOI] [PubMed] [Google Scholar]
  7. Kobayashi Y., Miyabayashi S., Takada G., Narisawa K., Tada K., Yamamoto T. Y. Ultrastructural study of the childhood mitochondrial myopathic syndrome associated with lactic acidosis. Eur J Pediatr. 1982 Sep;139(1):25–30. doi: 10.1007/BF00442074. [DOI] [PubMed] [Google Scholar]
  8. Morgan-Hughes J. A., Darveniza P., Kahn S. N., Landon D. N., Sherratt R. M., Land J. M., Clark J. B. A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. Brain. 1977 Dec;100(4):617–640. doi: 10.1093/brain/100.4.617. [DOI] [PubMed] [Google Scholar]
  9. Müller-Höcker J., Pongratz D., Deufel T., Trijbels J. M., Endres W., Hübner G. Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle. Virchows Arch A Pathol Anat Histopathol. 1983;399(1):11–23. doi: 10.1007/BF00666215. [DOI] [PubMed] [Google Scholar]
  10. Ogasahara S., Nishikawa Y., Yorifuji S., Soga F., Nakamura Y., Takahashi M., Hashimoto S., Kono N., Tarui S. Treatment of Kearns-Sayre syndrome with coenzyme Q10. Neurology. 1986 Jan;36(1):45–53. doi: 10.1212/wnl.36.1.45. [DOI] [PubMed] [Google Scholar]
  11. Pavlakis S. G., Phillips P. C., DiMauro S., De Vivo D. C., Rowland L. P. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol. 1984 Oct;16(4):481–488. doi: 10.1002/ana.410160409. [DOI] [PubMed] [Google Scholar]
  12. Seligman A. M., Karnovsky M. J., Wasserkrug H. L., Hanker J. S. Nondroplet ultrastructural demonstration of cytochrome oxidase activity with a polymerizing osmiophilic reagent, diaminobenzidine (DAB). J Cell Biol. 1968 Jul;38(1):1–14. doi: 10.1083/jcb.38.1.1. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Shapira Y., Harel S., Russell A. Mitochondrial encephalomyopathies: a group of neuromuscular disorders with defects in oxidative metabolism. Isr J Med Sci. 1977 Feb;13(2):161–164. [PubMed] [Google Scholar]
  14. Yamamoto T., Beppu H., Tsubaki T. Mitochondrial encephalomyopathy: fluctuating symptoms and CT. Neurology. 1984 Nov;34(11):1456–1460. doi: 10.1212/wnl.34.11.1456. [DOI] [PubMed] [Google Scholar]

Articles from Journal of Neurology, Neurosurgery, and Psychiatry are provided here courtesy of BMJ Publishing Group

RESOURCES