Skip to main content
SpringerLink
Log in

Neuropathology in Kearns-Sayre syndrome

  • Regular Papers
  • Published:
Acta Neuropathologica Aims and scope Submit manuscript

Summary

The neuropathological changes found at autopsy in a case of Kearns-Sayre syndrome are described. We have previously analyzed the respiratory chain function in isolated muscle mitochondria and also described a large deletion of muscle mitochondrial DNA (mtDNA) in this case. The neuropathological examination revealed prominent neuronal degeneration and gliosis of the basal ganglia and there were bilateral areas of softening and total loss of nerve cells in the lenticular nuclei. The pallidum and caudate nucleus disclosed accumulation of iron-containing pigment. The white matter in the cerebrum, brain stem and cerebellum showed widespread and focally accentuated spongy change due to splitting of myclin lamellae. It is suggested that deficiency of respiratory chain enzymes due to the mtDNA deletion is of pathogenetic importance in the development of the described changes.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Adachi M, Torii J, Volk BW, Briet P, Wolintz A, Schneck L (1973) Electron microscopic and enzyme histochemical studies of cerebellum, ocular and skeletal muscles in chronic progressive ophthalmoplegia with cerebellar ataxia. Acta Neuropathol (Berl) 23:300–312

    Google Scholar 

  2. Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, Hays A, Vicale CT, Behrens M, Chutorian A, Rowland LP (1977) Lumping or splitting? “Ophthalmoplegia plus” or Kearns-Sayre syndrome? Ann Neurol 1:37–54

    Google Scholar 

  3. Bresolin N, Moggio M, Bet L, Gallanti A, Prelle A, Nobile-Orazio E, Adobbati L, Ferrante C, Pellegrini G, Scarlato G (1987) Progressive cytochrome c oxidase deficiency in a case of Kearns-Sayre syndrome: morphological, immunological and biochemical studies in muscle biopsies and autopsy tissue. Ann Neurol 21:564–572

    Google Scholar 

  4. Brierley JB, Graham DI (1984) Hypoxia and vascular disorders of the central nervous system. In: Adams JH, Corsellis JAN, Duchan LW (eds) Greenfield's neuropathology, 4th edn. Edward Arnold, London, pp 125–207

    Google Scholar 

  5. Castaigne P, Laplane D, Escourolle R, Augustin P, de Recondo J, Martinez GJ, Villanueva Eusa JA (1971) Ophtalmoplégie externe progressive avec spongiose des noyaux du tronc cérébral. Rev Neurol (Paris) 124:454–466

    Google Scholar 

  6. Castaigne P, Lhermitte F, Escourolle R, Chain F, Fardeau F, Hauw J, Curet J, Flavigny C (1977) Etude anatomo-clinique d'une observation d'“Ophtalmoplegia plus” avec analyse des lésions musculaires, nerveuses centrales, oculaires, myocardiques et thyroidiennes. Rev Neurol (Paris) 133:369–386

    Google Scholar 

  7. Clare DS, Myrburg RJ, Morales AR, Befeler B, Hernandez FA, Gelband H (1975) Heart block in Kearns-Sayre syndrome. Electrophysiologic-pathologic correlation. Chest 68:727–730

    Google Scholar 

  8. Daroff RB, Solitare GB, Pincus JH, Glaser GH (1966) Spongiform encephalopathy with chronic progressive external ophthalmoplegia. Central ophthalmoplegia mimicking ocular myopathy. Neurology 16:161–169

    Google Scholar 

  9. DiMauro S, Bonilla E, Zeviani M, Nakagawa M, DeVivo DC (1985) Mitochondrial myopathies. Ann Neurol 17:521–538

    Google Scholar 

  10. Friede RL (1966) Topographic brain chemistry. Academic Press, New York, pp 466–468 and pp 105–106

    Google Scholar 

  11. Friede RL (1989) Developmental neuropathology, 2nd edn. Springer, Berlin Heidelberg, pp 510–533

    Google Scholar 

  12. Ginsburg MD (1980) Carbon monoxide. In: Spencer PS, Schaumburg HH (eds) Experimental and clinical neurotoxicology. Williams & Wilkins, Baltimore, pp 374–394

    Google Scholar 

  13. Groothuis DR, Schulman S, Wollman R, Frey J, Vick NA (1980) Demyelinating radiculopathy in the Kearns-Sayre syndrome: a clinicopathological study. Ann Neurol 8:373–380

    Google Scholar 

  14. Hallervorden J, Spatz H (1922) Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia nigra. Z Neurol Psychiatr 79:254–302

    Google Scholar 

  15. Horwitz S, Roessmann U (1978) Kearns-Sayre syndrome with hypoparathyroidism. Ann Neurol 3:513–518

    Google Scholar 

  16. Jager BV, Fred HL, Butler RB, Carnes WH (1960) Occurrence of retinal pigmentation, ophthalmoplegia, ataxia, deafness, and heart block. Am J Med 7:888–893

    Google Scholar 

  17. Kalimo H, Fredriksson K, Nordborg C, Auer RN, Olsson Y, Johansson B (1986) The spread of brain oedema in hypertensive brain injury. Med Biol 64:133–137

    Google Scholar 

  18. Kearns TP, Sayre GP (1958) Retinitis pigmentosa, external ophthalmoplegia, and complete heart block. Arch Ophthalmol 60:280–289

    Google Scholar 

  19. Larsson N-G, Holme E, Kristiansson B, Oldfors A, Tulinius M (1990) Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Pediatr Res 28:131–136

    Google Scholar 

  20. Lestienne P, Ponsot G (1988) Kearns-Sayre syndrome with muscle DNA deletion. Lancet I:885

    Google Scholar 

  21. Moraes CR, DiMauro S, Zeviani M, Lombes A, Shanske S, Miranda AF, Nakase H, Bonilla E, Werneck LC, Servidei S, Nonaka I, Koga Y, Spiro AJ, Brownell KW, Schmidt B, Schotland DL, Zupanc M, De Vivo DC, Schon EA, Rowland LP (1989) Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med 320:1293–1299

    Google Scholar 

  22. Oldfors A, Sommerland H, Holme E, Tulinius M, Kristiansson B (1989) Cytochrome c oxidase deficiency in infancy. Acta Neuropathol 77:267–275

    Google Scholar 

  23. Paulus W, Pfeiffer J (1990) Intracerebral distribution of mitochondrial abnormalities in 21 cases of infantile spongy dystrophy. J Neurol Sci 95:49–62

    Google Scholar 

  24. Powell HC, Myers RR, Lamperts PW (1980) Edema in neurotoxic injury. In: Spencer PS, Schaumburg HH (eds) Experimental and clinical neurotoxicology. Williams & Wilkins, Baltimore, pp 118–138

    Google Scholar 

  25. Rowland LP, Hays AP, DiMauro S, DeVivo DC, Behrens M (1983) Diverse clinical disorders associated with morphological abnormalities of mitochondria. In: Scarlato G, Cerri C (eds) Mitochondrial pathology in muscle diseases. Piccin Medical Books, Padua, pp 141–158

    Google Scholar 

  26. Schneck L, Adachi M, Briet P, Wolintz A, Volk BW (1973) Ophthalmoplegia plus with morphological and chemical studies of cerebellar and muscle tissue. J Neurol Sci 19:37–44

    Google Scholar 

  27. Zeviani M, Moraes CT, DiMauro S, Nakase H, Bonilla E, Schon EA, Rowland LP (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38:1339–1346

    Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathology, Göteborg University, S-413 45, Göteborg, Sweden

    A. Oldfors & I. -M. Fyhr

  2. Department of Clinical Chemistry, Göteborg University, S-413 45, Göteborg, Sweden

    E. Holme & N. -G. Larsson

  3. Department of Pediatrics, Göteborg University, S-413 45, Göteborg, Sweden

    M. Tulinius

Authors
  1. A. Oldfors
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. I. -M. Fyhr
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. E. Holme
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. N. -G. Larsson
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. M. Tulinius
    View author publications

    You can also search for this author in PubMed Google Scholar

Additional information

Supported by Swedish Medical Research Council (Project no. 7122 and 585)

Rights and permissions

Reprints and permissions

About this article

Cite this article

Oldfors, A., Fyhr, I.M., Holme, E. et al. Neuropathology in Kearns-Sayre syndrome. Acta Neuropathol 80, 541–546 (1990). https://doi.org/10.1007/BF00294616

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00294616

Key words

Search

Navigation