Summary
Autopsy reports are presented of three cases of a rapidly progressive encephalopathy with clinical onset around one year of age, early amaurosis, and microcephaly. Convulsions were few or absent. The disorder led to an extraordinary degree of brain atrophy, due to total loss of neurons from the cerebral and cerebellar cortex, and an advanced degree of neuronal destruction in most subcortical centres. The giant cells of Betz and the primary motor and sensory neurons were notable exceptions. The surviving neurons, other neuroectodermal cells, and a number of extraneural cell types showed accumulation of autofluorescent sudanophilic granules, resistant to lipid solvents, in their cytoplasm. Ultrastructurally, these granules were of the residual body type, consisting of membrane-bound conglomerations of spherical globules 0.2–0.5 μm in diameter, with a homogeneous, finely granular internal structure. These lesions were associated with a pronounced astrocytic and mesenchymal reaction with the presence of large numbers of phagocytic cells in the grey matter of the CNS and, to a lesser extent, in other tissues. In addition, there was almost total loss of myelin from the brain, apparently due to Wallerian degeneration.
The characteristic clinical, histological and ultrastructural features differentiate this condition from other progressive encephalopathies of the age group in question, including the late infantile type of the Batten-Vogt syndrome. Recent ultrastructural and biochemical findings indicate that the disease of our patients is identical with the progressive encephalopathy with disturbed polyunsaturated fat metabolism described by Hagberget al. (1968).
Similar content being viewed by others
References
Allegranza, A., Strada, G. P., Borri, P. F.: A case of late infantile amaurotic idiocy and a case of an unusual storage disease with visceral involvement. Path. europ.3, 248–258 (1968)
Andrews, J. M., Sorenson, V., Cancilla, P. A., Price, H. M., Menkes, J. H.: Late infantile neurovisceral storage disease with curvilinear bodies. Neurology (Minneap.)21, 207–217 (1971)
Benz, U.-U., Peiffer, J., Schlote, W.: Morphologische und biochemische Untersuchungen über einen Fall von juveniler amaurotischer Idiotie (neuronale Ceroid-Lipofuszinosis). In: H. Bredt u. G. Seifert (ed.): Aktuelle Probleme der Kinderpathologie, S. 427–432. Stuttgart: G. Fischer 1972
Carpenter, S., Karpati, G., Andermann, F.: Specific involvement of muscle, nerve, and skin in late infantile and juvenile amaurotic idiocy. Neurology (Minneap.)22, 170–186 (1972)
Dayan, A. D., Trickey, R. J.: Thyroid involvement in juvenile amaurotic family idiocy (Batten's disease). Lancet1970 II, 296–297
Dolman, C. L., Chang, E.: Visceral lesions in amurotic familial idiocy with curvilinear bodies. Arch. Path.94, 425–430 (1972)
Donahue, S., Zeman, W., Watanabe, I.: Electron microscopic observations in Batten's disease. In: S. M. Aronson and B. W. Volk (eds.): Inborn disorders of sphingolipid metabolism, pp. 3–22. Oxford: Pergamon Press 1967
Duffy, P. E., Kornfeld, M., Suzuki, K.: Neurovisceral storage disease with curvilinear bodies. J. Neuropath. exp. Neurol.27, 351–370 (1968)
Elfenbein, I. B., Cantor, H. E.: Late infantile amaurotic idiocy with multilamellar cytosomes: An electron microscopic study. J. Pediat.75, 253–264 (1969)
Elsner, B., Prensky, A. L.: Ultrastructure of rectal biopsies in juvenile amaurotic idiocy. Neurology (Minneap.)19, 834–840 (1969)
Gambetti, P.: The multilamellar cytosome in late infantile amaurotic idiocy. J. Neuropath. exp. Neurol.29, 138 (1970)
Gonatas, N. K., Gambetti, P., Baird, H.: A second type of late infantile amaurotic idiocy with multilamellar cytosomes. J. Neuropath. exp. Neurol.27, 371–389 (1968)
Haelst, U. J. G. M. van, Gabreëls, F. J. M.: The electron microscopic study of the appendix as early diagnostic means in Batten-Spielmeyer-Vogt disease. Acta neuropath. (Berl.)21, 169–175 (1972)
Hagberg, B., Sourander, P., Svennerholm, L.: Late infantile progressive encephalopathy with disturbed polyunsaturated fat metabolism. Acta paediat. scand.57, 495–499 (1968)
Haltia, M., Rapola, J., Santavuori, P., Keränen, A.: Infantile type of so-called neuronal ceroid-lipofuscinosis. II. Morphological and biochemical studies. J. neurol. Sci.18, 269–285 (1973)
Herman, M. M., Rubinstein, L. J., McKhann, G. M.: Additional electron microscopic observations on two cases of Batten-Spielmeyer-Vogt disease (neuronal ceroid-lipofuscinosis). Acta neuropath. (Berl.)17, 85–102 (1971)
Ishii, T., Gonatas, N. K.: The multilamellar cytosome in late infantile amaurotic idiocy. Acta neuropath. (Berl.)19, 265–270 (1971)
Joosten, E., Gabreëls, F., Stadhouders, A., Bolmers, D., Gabreëls-Festen, A.: Involvement of sural nerve in neuronal ceroid-lipofuscinoses: report of two cases. Neuropädiatrie4, 98–110 (1973)
Kantero, R. L., Tiisala, R.: Growth of head circumference from birth to 10 years. Acta paediat. scand., Suppl. 220 (1971)
Kornfeld, M.: Generalized lipofuscinosis (generalized Kufs disease). J. Neuropath. exp. Neurol.31, 668–682 (1972)
Kristensson, K., Rayner, S., Sourander, P.: Visceral involvement in juvenile amaurotic idiocy. Acta neuropath. (Berl.)4, 421–424 (1965)
Peiffer, J.: Miorphologische Aspekte der Epilepsien. Berlin-Göttingen-Heidelberg: Springer 1963
Richardson, M. E., Bornhofen, J. H.: Early childhood cerebral lipidosis with prominent myoclonus. Ultrastructural and histochemical studies of a cerebral biopsy. Arch. Neurol. (Chic.)18, 34–43 (1968)
Richter, R., Parmelee, A. H.: Late infantile amaurotic idiocy with marked cerebral atrophy. Clinical and anatomic report of a case. Amer. J. Dis. Child.50, 111–131 (1935)
Ryan, G. B., Anderson, R. McD., Menkes, J. H., Dennett, X.: Lipofuscin (ceroid) storage disease of the brain. Neuropathological and neurochemical studies. Brain93, 617–628 (1970)
Santavuori, P.: Batten-Spielmeyer-Vogt in tauti. Duodecim88, 35–39 (1972)
Santavuori, P., Haltia, M., Rapola, J., Raitta, C.: Infantile type of so-called neuronal ceroid-lipofuscinosis. I. A clinical study of 15 cases. J. neurol. Sci.18, 257–267 (1973)
Schröder, J. M., Thomas, E., Kollmann, F.: Formvarianten kurvilinearer Zytosomen in Gehirn-, Leber- und Knochenmarksbiopsien bei neuroviszeralen Lipidosen. In: H. Bredt u. G. Seifert (eds.): Aktuelle Probleme der Kinderpathologie, S. 432–437. Stuttgart: G. Fischer 1972
Seitelberger, F.: Sonderformen zerebraler Lipidosen. Histochemische und histologische Befunde. In: Proc. IVth Internat. Congr. Neuropath., Vol. I, pp. 3–13. Stuttgart: G. Thieme 1962
Seitelberger, F., Jacob, H., Schnabel, R.: The myoclonic variant of cerebral lipidosis. In: S. M. Aronson, and B. W. Volk (eds.): Inborn disorders of sphingolipid metabolism, pp. 43–74. Oxford: Pergamon Press 1967
Seitelberger, F., Sluga, E., Bernheimer, H.: Studies on neuronal lipid dystrophies. Path. europ.3, 230–247 (1968)
Sjövall, E., Ericsson, E.: The anatomical type in the Swedish cases of juvenile amaurotic idiocy. Acta path. microbiol. scand., Suppl.16, 460–471 (1932)
Sluga, E., Majdetzki, Th.: Zur Ultrastruktur des Speichermaterials von spätinfantiler amaurotischer Idiotie. Acta neuropath. (Berl.)9, 254–272 (1967)
Suzuki, K., Johnson, A. B., Marquet, E., Suzuki, K.: A case of juvenile lipidosis: electron microscopic, histochemical and biochemical studies. Acta neuropath. (Berl.)11, 122–139 (1968)
Tingey, A. H., Norman, R. M., Urich, H., Beasley, W. H.: Chemical and pathological findings in a case of late infantile amaurotic family idiocy of the Batten type. J. ment. Sci.104, 91–102 (1958)
Towfighi, J., Baird, H. W., Gambetti, P., Gonatas, N. K.: The significance of cytoplasmic inclusions in late infantile and juvenile amaurotic idiocy. An ultrastructural study. Acta neuropath. (Berl.)23, 32–42 (1973)
Ulrich, J.: Die cerebralen Entmarkungskrankheiten im Kindesalter. Diffuse Hirnsklerosen. Berlin-Heidelberg-New York: Springer 1971
Zeman, W., Donahue, S.: Fine structure of the lipid bodies in juvenile amaurotic idiocy. Acta neuropath. (Berl.)3, 144–149 (1963)
Zeman, W., Donahue, S., Dyken, P., Green, J.: The neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome). In: P. J. Vinken, and G. W. Bruyn (eds.): Handbook of clinical neurology, vol. 10, pp. 588–679. Amsterdam: North-Holland Publishing Co. 1970
Zeman, W., Dyken, P.: Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy? Pedriatrics44, 570–583 (1969)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Haltia, M., Rapola, J. & Santavuori, P. Infantile type of so-called neuronal ceroid-lipofuscinosis. Acta Neuropathol 26, 157–170 (1973). https://doi.org/10.1007/BF00697751
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00697751