Acta Neuropathologica

, Volume 21, Issue 3, pp 232–238 | Cite as

Neuroaxonal dystrophy

A case of non pigmented type and protracted course
  • Jacques Thibault
Original Investigations

Summary

A case of a slowly progressing degenerative disorder of the nervous system characterized by generalized neuroaxonal dystrophy, cerebellar atrophy and degeneration of the long fiber tracts of the spinal cord in an adult deceased of bronchopneumonia at the age of 38, is presented. Convulsive seizures had occurred in the first months of life but the true onset of the disease was approximately at the age of 12. A still living 50 year-old sister developed convulsive seizures at the age of 15 and shows actually a spino-cerebellar syndrome. Light and electron microscopic study of the central nervous tissue confirmed the presence of the abnormal structures found in primary neuroaxonal dystrophy. No abnormal pigmentation was noted in the pallidum, whereas the cells of the substantia nigra were normally pigmented. This case seems to represent either a “juvenile-adult” form of Seitelberger's disease or a non-pigmented form of Hallervorden-Spatz disease and is a strong argument in favor of a close relation between the two diseases.

Key words

Neuroaxonal Dystrophy Non Pigmented Type Hallervorden-Spatz Disease Cerebellar Atrophy 

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References

  1. Brucher, J. M., Dom, R., Robin, A.: Dégénérescence spongieuse juvénile du système nerveux central. Ses rapports avec la maladie d'Hallervorden-Spatz et les dystrophies neuroaxonales. Rev. neurol.119, 425–444 (1968).Google Scholar
  2. Cowen, D., Olmstead, E. V.: Infantile neuroaxonal dystrophy. J. Neuropath. exp. Neurol.22, 175–236 (1963).Google Scholar
  3. Duncan, C., Strub, R., McGarry, P., Duncan, D.: Peripheral nerve biopsy as an aid to diagnosis in infantile neuroaxonal dystrophy. Neurology (Minneap.)20, 1024–1032 (1970).Google Scholar
  4. Hallervorden, J., Spatz, H.: Eigenartige Erkrankung im extrapyramidalen System mit besonderer Beteiligung der Globus pallidus und der Substantia Nigra. Ein Beitrag zu den Beziehungen zwischen diesen beiden Zentren. Z. ges. Neurol. Psychiat.79, 254–302 (1922).Google Scholar
  5. Herman, M. M., Huttenlocher, P. R., Bensch, K. G.: Electron microscopic observations in infantile neuroaxonal dystrophy. Arch. Neurol. (Chic.)20, 19–34 (1969).Google Scholar
  6. Huttenlocher, P. R., Gilles, F. H.: Infantile neuroaxonal dystrophy. Neurology (Minneap.)17, 1174–1184 (1967).Google Scholar
  7. Indravasu, S., Dexter, R. A.: Infantile neuroaxonal dystrophy and its relationship to Hallervorden-Spatz disease. Neurology (Minneap.)18, 693–699 (1968).Google Scholar
  8. Kamoshita, S., Neustein, H. B., Landing, B. H.: Infantile neuroaxonal dystrophy with neonatal onset. J. Neuropath. exp. Neurol.27, 300–323 (1968).Google Scholar
  9. Lyon, G., Sée, G.: La dégénérescence neuro-axonale infantile (Maladie de Seitelberger). Rev. neurol.109, 133–155 (1963).Google Scholar
  10. Rozdilsky, B., Cumings, J. N., Huston, A. F.: Hallervorden-Spatz disease—Late infantile and adult types. Report of two cases. Acta neuropath. (Berl.)10, 1–16 (1968).Google Scholar
  11. —, Bolton, C. F., Takeda, M.: Neuroaxonal dystrophy. A case of delayed onset and protracted course. Acta neuropath. (Berl.)17, 331–340 (1971).Google Scholar
  12. Sacks, O. W., Aguilar, M. J., Brown, W. J.: Hallervorden-Spatz disease. Its pathogenesis and place among the axonal dystrophies. Acta neuropath. (Berl.)6, 164–174 (1966).Google Scholar
  13. Sandbank, U., Lerman, P., Geifman, F.: Infantile neuroaxonal dystrophy: cortical axonic and presynaptic changes. Acta neuropath. (Berl.)16, 342–352 (1970).Google Scholar
  14. Seitelberger, F.: Eine unbekannte Form von infantiles Lipoidspeicherkrankheit des Gehirns. Proc. 1st Cong. Neuropath., Vol 3, pp. 323–333. Turin: Rosenberg et Sellier 1952.Google Scholar
  15. —: Eine eigenartige Stoffwechselerkrankung der Ganglienzellen im Zentralnervensystem. Proc. 5th Int. Cong. Neurol., Vol 3, pp. 484–491. Lisbon: Comptes Rendus 1954.Google Scholar
  16. 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).Google Scholar

Copyright information

© Springer-Verlag 1972

Authors and Affiliations

  • Jacques Thibault
    • 1
  1. 1.Department of NeuropathologyHôpital St-Michel-Archange QuébecQuébec 5Canada

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