Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

Un cas de dystrophie neuroaxonale infantile ou maladie de Seitelberger

III. Étude ultrastructurale du muscle strié

  • 22 Accesses

  • 19 Citations


This paper deals with the first ultrastructural study of muscle fiber in a child affected by infantile neuroaxonal dystrophy or Seitelberger's disease. In a first step, diagnosis was performed by light and electron microscopy in biopsy and autopsy findings in central and peripheral nervous system. Muscle fiber and axonal changes are very similar. The ultrastructure findings in muscle fiber are as follows: 1. neural atrophy, 2. overproduction of membrano-tubular structures related to sarcoplasmic reticulum hyperplasia, 3. filamentous aggregates by presumed overproduction of myofilaments, 4. overproduction of abnormal mitochondria. These changes, already described in various muscular diseases, are not specific; they seem related to an abnormal muscle fiber reaction in close association to dystrophic axonal endings.

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


  1. Bennett, H. S.: The structure of striated muscle as seen by electron microscope. In: Bourne: Structure and function of muscle, Vol. I, pp. 137–181. New York: Acad. Press 1960.

  2. Bérard-Badier, M.: Dystrophie neuroaxonale infantile. I. Ultrastructure des sphéroides. Proc. VIo Cong. Intern. Neuropath. Paris, pp. 101–102. Paris: Masson 1970.

  3. — Tripier, M.-F., Pinsard, N., Bernard, R.: A case of infantile neuroaxonal dystrophy. In: Strabismus, vol. 69, pp. 82–85. London: Kimpton 1970.

  4. Bérard-Badier, M., Toga, M., Gambarelli, D., Pinsard, N.: Infantile neuroaxonal dystrophy. II. Peripheral nerve involvement. Electron microscopic study in one case. Symposium Axon Flow. Vienne Sept. 1970. Acta neuropath. (Berl) Suppl. V 1971.

  5. Bischoff, A.: The ultrastructure of tri-ortho-cresyl-phosphate poisoning. I. Studies on myelin and axonal alterations in the sciatic nerve. Acta neuropath. (Berl.)9, 158–174 (1967).

  6. —: II. Studies on spinal cord alterations. Acta neuropath. (Berl.)15, 142–155 (1970).

  7. Blakemore, W. F., Cavanagh, J. B.: Neuroaxonal dystrophy occuring in an experimental dying-back process in the rat. Brain92, 789–804 (1969).

  8. Cavanagh, J. B., Patangia, G. N.: Changes in the central nervous system in the cat as the result of tri-ortho-cresyl-phosphate poisoning. Brain88, 165–180 (1965).

  9. Challice, C. E.: Studies on the microstructure of the heart. I. The sino-atrial node and sinoatrial ring bundle. J. roy. micr. Soc.85, 1–21 (1966).

  10. Cowen, D., Olmstead, E. V.: Infantile neuroaxonal dystrophy. J. Neuropath. exp. Neurol.22, 175–236 (1963).

  11. Defelice, L. J., Challice, C. E.: Anatomical and ultrastructural study of the electrophysiological atrioventricular node of the rabbit. Circulat. Res.24, 457–474 (1969).

  12. Engel, W. K.: The essentiality of histo- and cytochemial studies of skeletal muscle in the investigation of neuromuscular disease. Neurology (Minneap.)12, 778–794 (1962).

  13. — Gomez, M. R.: Nemaline (Z disk) myopathy: observations on the origin, structure and solubility properties of the nemaline structure. J. Neuropath. exp. Neurol.26, 601–619 (1967).

  14. Fardeau, M.: Présence de nombreux microtubules dans les fibres musculaires squelettiques au cours de l'atrophie neurogène par atteinte périphérique. C.R. soc. Biol. (Paris)159, 302–303 (1965).

  15. — Lapresle, J., Milhaud, M.: Contribution à l'étude des lésions élémentaires du muscle strié squelettique: ultrastructure des masses sarcoplasmiques latérales (observées dans un cas de dystrophie myotonique). C. R. Soc. Biol. (Paris)159, 15–17 (1965).

  16. Gambetti, P., Mellman, W. J., Gonatas, N. K.: Familial spongy-degeneration of the central nervous system (van Bogaert-Bertrand disease). Acta neuropath. (Berl.)12, 103–116 (1969).

  17. Gruner, J. E.: La structure fine du fuseau neuromusculaire humain. Rev. neurol.104, 490–507 (1961).

  18. —: Anomalies du reticulum sarcoplasmique et prolifération de tubules dans le muscle d'une paralysie périodique familiale. C.R. Soc. Biol. (Paris)160, 193–195 (1966).

  19. Hallervorden, J., Spatz, H.: Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung des Globus pallidus und der Substantia Nigra. Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Z. ges. Neurol. Psychiat.79, 254–302 (1922).

  20. Hedley-Whyte, E. T., Floyd, M. B., Gilles, H., Uzman, B. G.: Infantile neuroaxonal dystrophy. A disease characterized by altered terminal axons and synaptic endings. Neurology (Minneap.)18, 891–906 (1968).

  21. Herman, M. M., Hutenlocher, P. R., Bensch, K. G.: Electron microscopic observations in infantile neuroaxonal dystrophy. Arch. Neurol. (Chic.)20, 19–34 (1969).

  22. Heuson-Stiennon, J. A.: Morphogénèse de la cellule musculaire striée étudiée au microscope électronique. I. Formation des structures fibrillaires. J. Microscop.4, 657–678 (1965).

  23. Hirano, A., Dembitzer, H., Kurland, L., Zimmerman, H.: The fine structure of some intraganglionic alterations. J. Neuropath. exp. Neurol.27, 167–182 (1968).

  24. Jellinger, K.: Neuroaxonale Dystrophien. Verh. dtsch. Ges. Path.52, 92–126 (1968).

  25. Kamoshita, S., Neustein, H. B., Landing, B. H.: Infantile neuroaxonal dystrophy with neonatal onset. J. Neuropath. exp. Neurol.27, 300–323 (1968).

  26. Kelly, D. E.: The fine structure of skeletal muscle triad junctions. J. Ultrastruct. Res.29, 37–49 (1969).

  27. Lampert, P.: A comparative electron microscopy study of reactive, degenerating, regenerating and dystrophic axons. J Neuropath. exp. Neurol.26, 345–368 (1967).

  28. —, Blumberg, J. M., Pentschew, A.: An electron microscopic study of dystrophic axons in the gracile and cuneate nuclei of vitamin E deficient rats (axonal dystrophy in vitamin E deficiency). J. Neuropath. exp. Neurol.23, 60–77 (1964).

  29. —, Pentschew, A.: An electron microscopic study of spheroid and convoluted bodies in dystrophic terminal axons. Acta neuropath. (Berl.)4, 158–168 (1964).

  30. Lapresle, J., Fardeau, M.: Diagnostic histologique des atrophies et hypertrophies musculaires. Maladies neuromusculaires. 8o Int. Cong. Neurology, Vienna. Tome 2, pp. 47–66, Série 94. Amsterdam: Excerpta Med. 1965.

  31. ——: Les désorganisations spatiales des myofibrilles, des sarcomères et des myofilaments dans les zones périphériques des fibres musculaires pathologiques étudiées en microscopie électronique. Acta neuropath. (Berl.)10, 105–117 (1968).

  32. Luft, R., Ikkos, D., Palmeri, G., Ernster, L., Afzelius, B.: A case of severe hypermetabolism of non-thyroïd origin with a defect in the maintenance of mitochondrial respiration control; a correlated clinical, biochemical and morphological study. J. clin. Invest.41, 1776–1804 (1962).

  33. Miledi, R., Slater, C. R.: Proc. roy. Soc. B 174–253 (1969).

  34. Milhorat, A. T., Shafiq, S. A., Goldstone, L.: Changes in muscle structure in dystrophic patients, carriers and normal siblings seen by electron microscopy; correlation with levels of serum creatine-phosphokinase (CPK). Ann. N.Y. Acad. Sci.138, 246–292 (1966).

  35. Mukuno, K.: The fine structure of the human extraocular muscle. (I) “A laminated structure” in the muscle fibers. J. Electr. Microscop.15, 227–236 (1966).

  36. Nakashima, N., Tamura, Z., Okamoto, S., Goto, H.: Inclusion bodies in human neuromuscular disorder. Arch. Neurol. (Chic.)22, 270–278 (1970).

  37. Odor, D. L., Patel, A. N., Pearce, L. A.: Familial hypokalemic periodic paralysis with permanent myopathy. J. Neuropath. exp. Neurol.26, 98–114 (1967).

  38. Popoff, N., Steward, S.: The fine structure of nuclear inclusions in the brain of experimental golden hamsters. J. Ultrastruct. Res.23, 347–361 (1968).

  39. Perocchia, C.: Ultrastructure of the spinal cord and the sciatic nerve of rats with tetanus toxin poisoning. Lab. Invest.15, 479–491 (1966).

  40. Pick, J.: The fine structure of sympathetic neurons in X-irradiated frogs. J. Cell Biol.26, 335–351 (1965).

  41. Porter, K. R.: The sarcoplasmic reticulum. Its recent history and present status. J. biophys. biochem. Cytol.10, 219–226 (1961).

  42. Prineas, M. B.: The pathogenesis of dying-back polyneuropathies. Part I. An ultrastructural study of experimental tri-ortho-cresyl phosphate intoxication in the cat. J. Neuropath. exp. Neurol.28, 571–591 (1969a).

  43. —: Tri-ortho-cresyl phosphate myopathy. Arch. Neurol. (Chic.)21, 150–156 (1969b).

  44. Rabinowicz, Th., Wildi, E.: Spastic amaurotic axonal idiocy. In: Cerebral lipidoses, pp. 34 à 47. J. N. Cumings,ed. Oxford: Blackwell 1957.

  45. Ruska, H., Edwards, G. A.: A new cytoplasmic pattern in striated muscle fibers and its relation to growth. Growth21, 73–88 (1957).

  46. Schlaepfer, W. W.: Experimental lead neuropathy: a disease of the supporting cells in the peripheral nervous system. J. Neuropath. exp. Neurol.28, 401–418 (1969).

  47. Schoene, W. C., Dooling, E. C., Steiner, M., Richardson, E. P.: Hallervorden-Spatz disease. Proc. 6o Cong. Intern. Neuropath. Paris, pp. 1134–1135. Paris: Masson 1970.

  48. Schröder, J. M., Adams, R. D.: The ultrastructural morphology of muscle fiber in myotonic dystrophy. Acta neuropath. (Berl.)10, 218–242 (1968).

  49. Schrodt, G. R., Walker, S. M.: Ultrastructure of membranes in denervation atrophy. Amer. J. Path.49, 33–51 (1966).

  50. Schutta, H. S., Armitage, J. L.: Thyrotoxic hypokalemic periodic paralysis. J. Neuropath. exp. Neurol.28, 321–336 (1969a).

  51. —, Johnson, L., Neville, H. E.: Mitochondrial abnomalities in bilirubin encephalopathy. J. Neuropath. exp. Neurol.29, 296–305 (1970).

  52. —, Kelly, A. M., Zacks, S. I.: Necrosis and regeneration of muscle in paroxysmal idiopathic myoglobinuria. Electron microscopic observation. Brain92, 191–202 (1969b).

  53. Seite, R.: Etude ultrastructurale de divers types d'inclusions nucléaires dans les neurones sympathiques du chat. J. Ultrastruct. Res.30, 152–165 (1970).

  54. Seitelberger, F.: Eine unbekannte Form von infantiler Lipoidspeicherkrankheit des Gehirns. Proc. Io Cong. Neuropath., vol. III, pp. 323–333. Turin: Rosenberg et Sellier 1952.

  55. —, Gross, H.: Über eine spätinfantile Form der Hallervorden-Spatzschen Krankheit. II. Mitteilungen: Histochemische Befunde. Erörterung der Nosologie. Dtsch. Z. Nervenheilk.176, 104–125 (1957).

  56. Shafiq, S. A., Dubowitz, V., Peterson, Hart de C., Milhorrat, A. T.: Nemaline myopathy report of a fatal case with histochemical and electron microscopic studies. Brain90, 817–828 (1967).

  57. Shafiq, S. A., Gorycki, M. A., Goldstone, L., Milhorat, A. T.: Anat. Rec. 156–283 (1966); cf.: Shafiq et al. (1967).

  58. Stoebner, P., Sengel, A., Jesel, M., Isch, F.: Ultrastructure de certaines polymyosites myasthéniformes. 6o Cong. Intern. Neuropath. Paris, pp. 1078–1079. Paris: Masson 1970.

  59. Toga, M., Bérard-Badier, M., Gambarelli-Dubois, D.: La dystrophie neuroaxonale infantile ou maladie de Seitelberger. Etude clinique, histologique et ultrastructurale de deux observations. Acta neuropath. (Berl.)15, 327–350 (1970).

  60. Tomé, F., Mair, W. G. P.: Electron microscopical and histochemical studies in muscle in a case of neuropathy with target fibres and laminar cytoplasmic structures. 6o Cong. Intern. Neuropath. Paris, pp. 1070–1071. Paris: Masson 1970.

  61. Viragh, Sz: in Proc. 3rd Regional Conf. Electron Microscopy, p. 95. Acad. Sci., Prague 1964; cf: Sz. Viragh and C. E. Challice (1969).

  62. —, Challice, C. E.: Variations in filamentous and fibrillar organization and associated sarcolemmal structures in cells of the normal mammalian heart. J. Ultrastruct. Res.28, 321–334 (1969).

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Toga, M., Bérard-Badier, M., Gambarelli, D. et al. Un cas de dystrophie neuroaxonale infantile ou maladie de Seitelberger. Acta Neuropathol 18, 327–341 (1971). https://doi.org/10.1007/BF00688446

Download citation


  • Infantile Neuroaxonal Dystrophy
  • Electron Microscopy
  • Striated Muscle
  • Membranous-Tubular Structures
  • Filamentous Structures