Summary
Ultrastructural study of the biopsied sural nerve in a case of infantile neuroaxonal dystrophy was made. The characteristic change in the ballooned axons is an accumulation of membranous profiles associated with mitochondria, glycogen like granules, dense bodies, vesicles and electron lucent material. The membranous profile is classified into three morphological types and discussed on each of them. Probably tubulo-membranous profile of the first type is most common and may be cardinal deposit in this condition. These membranous structures of various types might be, however, only different manifestations occurring on the same morbid process. Enormous amount of glycogen like granules and mitochondria might be related to the metabolic derangement of carbohydrate in the ballooned axons. Electron lucent material we observed was not described in the previous papers on this condition. We added one more example showing that nerve biopsy is helpful to confirm the diagnosis in infantile neuroaxonal dystrophy.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Berard-Badier, M., Gambarelli, D., Pinsard, N., Hassoun, J., Toga, M.: Infantile neuroaxonal dystrophy or Seitelberger's disease. II. Peripheral nerve involvement: Electron microscopic study in one case. Acta neuropath. (Berl.) Suppl. V, 30–39 (1971)
Chen, H. C., Lin, C. S., Lien, I. N.: Vascular permeability in experimental kernicterus: An electron-microscopic study of the blood-brain barrier. Amer. J. Path.51, 69–100 (1967)
Cowen, D., Olmestead, E. D.: Infantile neuroaxonal dystrophy. J. Neuropath. exp. Neurol.22, 175–236 (1963)
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)
Gonatas, N. K., Baird, H. W., Evangelista, I.: The fine structure of neocortical synapses in infantile amaurotic idiocy. J. Neuropath. exp. Neurol.27, 39–49 (1968)
Gonatas, N. K., Evangelista, I., Walsh, G. O.: Axonic and synaptic changes in a case of psychomotor retardation: An electron microscopic study. J. Neuropath. exp. Neurol.26, 179–199 (1967)
Haberland, C., Brunngraber, E. G., Witting, L. A.: Infantile neuroaxonal dystrophy: Neuropathological and biochemical study of a case. Arch. Neurol. (Chic.)26, 391–402 (1972)
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)
Herman, M. M., Huttenlocher, P. R., Bensch, K. G.: Electron microscopic observations in infantile neuroaxonal dystrophy. Arch. Neurol. (Chic.)20, 19–34 (1969)
Huttenlocher, P. R., Gilles, F. H.: Infantile neuroaxonal dystrophy: Clinical, pathologic and histochemical findings in a family 3 affected siblings. Neurology (Minneap.)17, 1174–1184 (1967)
Jones, M., Ferrans, V. J.: Intramitochondrial glycogen in hypertrophied infundibular muscle of patient with congenital heart disease. Amer. J. Path.70, 69–83 (1973)
Jellinger, K.: Neuroaxonale Dystrophien. Verh. dtsch. Ges. Path.52, 92–126 (1968)
Jellinger, K., Jirasek, A.: Neuroaxonal dystrophy in man: character and natural history. Acta neuropath. (Berl.), Suppl. V, 3–16 (1971)
Lampert, P. W.: A comparative electron microscopic study of reactive, degenerating, regenerating and dystrophic axons. J. Neuropath. exp. Neurol.26, 345–368 (1967)
Martin, J. J., Martin, L.: Infantile neuroaxonal dystrophy: Ultrastructural study of the peripheral nerves and of the motor end plates. Europ. Neurol.8, 239–250 (1972)
Martin, L., Trelles, L., Martin, J. J.: Evolution clinique de la dystrophie neuro-axonale infantile a la lumiere de la chronologie des atrophies systematisees sous-jacentes. J. neurol. Sci.15, 439–455 (1972)
Sandbank, U., Lerman, P., Gelfman, M.: Infantile neuroaxonal dystrophy. Cortical axonic and presynaptic changes. Acta neuropath. (Berl.)16, 342–352 (1970)
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)
Schutta, H. S., Johnson, L., Neville, H. E.: Mitochondrial abnormalities in bilirubin encephalopathy. J. Neuropath. exp. Neurol.29, 296–305 (1970)
Sengel, A., Stoebner, P.: Interet de la biopsie neuro-maculaire dans le diagnostic de la dystrophie neuro-axonale infantile: Etude ultrastructurale de 3 cas dont 2 familieux. Acta neuropath. (Berl.)21, 109–116 (1972)
Seitelberger, F.: Eine unbekannte Form von infantiler Lipoid-speicher-Krankheit des Gehirns. Proc. 1st Congr. Neuropath., Vol. 3, pp. 323–333. Turin: Rosenber & Seller 1952
Seitelberger, F., Gootz, M., Gros, H.: Beitrag zur spätinfantilen Hallervorden-Spatzschen Krankheit. Acta neuropath. (Berl.)3, 16–28 (1963)
Toga, M., Berard-Badier, M., Gamberelli-Dubois, D.: La dystrophie neuroaxonale infantile ou maladie de Seitelberger: Etude clinique, histologique et ultrastructurale de deux observations. Acta neuropath. (Berl.)15, 327–357 (1970)
Yagishita, S., Kimura, S.: Infantile neuroaxonal dystrophy (Seitelberger's disease): A light and ultrastructural study. Acta neuropath. (Berl.)31, 191–200 (1975)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Shimono, M., Ohta, M., Asada, M. et al. Infantile neuroaxonal dystrophy. Acta Neuropathol 36, 71–79 (1976). https://doi.org/10.1007/BF00685149
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00685149