Summary
The authors report histochemical and electron mciroscopic data of brain biopsies in two cases of Battern's disease. The siblings affected, a male and a female, are born from consanguineous North African parents. The diagnosis of Ceroïd-Lipofuscinosis is supported by neuro-glial, endothelial and perithelial autofluorescent cell storage. By electron microscopy the abnormal cytosomes show both curvilinear and finger-print profiles; their lysosomal nature is supported by their obvious acid phosphatase activity. These lipopigment cytoplasmic inclusions are compared with those described in senile brains and in other cases of Batten's disease.
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Donahue, S., Zeman, W., Watanabe, J.: Electron microscopic observation in Batten's disease. In: Inborn disorders of sphingolipid metabolism, pp. 3–22. S. M. Aronson et B. W. Volk (eds.). 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)
Gonatas, N. K., Gambetti, P., Baird, H.: A second type of late infantile amaurotic idiocy with multilamellar cytosomes. J. Neuropath. exp. Neurol.27, 371–390 (1968)
Gonatas, N. K., Gambetti, P., Tucker, S. A., Evangelista, L., Baird, H. W.: Cytoplasmic inclusions in juvenile amaurotic idiocy. J. Pediat.75, 796–805 (1969)
Odor, D. L., Pearce, L. A., Janeway, R.: Juvenile amaurotic idiocy, an electron microscopic study. Neurology (Minneap.)16, 497–504 (1966)
Porta, E. A., Hartroft, W. S.: Lipid pigments in relation to aging and dietery factors (lipofuscins). In: Pigments in pathology, pp. 192–236, M. Wolman (ed.). New York-London: Academic Press 1969
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)
Samorajski, J., Keefe, J. A., Orde, J. M.: Intracellular localisation of lipofuscin age pigments in the nervous system. J. Geront.19, 262–276 (1964)
Seitelberger, E., Jacob, H., Schnabel, R.: The myoclonic variant of cerebral lipidosis. In: Inborn disorders of sphingolipid metabolism, pp. 43–74. S. M. Aronson et B. W. Volk (ed.) Oxford: Pergamon Press 1967
Sluga, E., Majdetski, T.: 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)
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)
Zeman, W., Donahue, S.: Fine structure of the lipid bodies in juvenile amaurotic idiocy. Acta neuropath. (Berl.)3, 144–149 (1963)
Zeman, W., Alpert, M.: On the nature of the «stored» lipid substances in juvenile amaurotic idiocy. Ann. Histochem.8, 255–257 (1963)
Zeman, W., Dyken, P.: Neuronal ceroid-lipofuscinosis (Batten's disease): relationship to amaurotic family idiocy. Pediatrics44, 570–583 (1969)
Zeman, W., Donahue, S., Dyken, P., Green J.: The neuronal ceroid-lipofuscinoses (Batten-Vogt syndrome). In: Handook of clinical neurology, vol. 10: Leucodystrophies and poliodystrophies, P. J. Vinken et G. W. Bruyn (ed.), pp. 588–679. Amsterdam: North Holland 1970
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Pellissier, J.F., Hassoun, J., Gambarelli, D. et al. Céroïde-lipofuscinose neuronale. Acta Neuropathol 28, 353–359 (1974). https://doi.org/10.1007/BF00685289
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DOI: https://doi.org/10.1007/BF00685289