Summary
The findings are described in an adult case of metachromatic leukodystrophy examined by light, polarization and electron microscopy. Symmetrical demyelination was found in the cerebral hemispheres, but was moderate in the cerebellum, brain stem and spinal cord. Early changes in myelin of peripheral nerves have been demonstrated by polarization microscopy. Various metachromatic structures have been described in glial cells and neurons by electron microscopy, indicating disturbances at different metabolic steps of lipid metabolism. There are minor but no essential ultrastructural differences in the disease of different ages.
Similar content being viewed by others
References
Anzil, P. A., Blinzinger, K., Martinius, J.: Ultrastructure of storage materials in metachromatic leukodystrophy peripheral neuropathy and in rabbit tissues after sulphatide application with special reference to pleated lamellar system. J. Microscop.18, 173–186 (1973)
Austin, J. H., Armstrong, D., Fouch, S., Mitchell, C., Stumpf, D., Shearer, L., Briner, O.: Metachromatic leukodystrophy in adults. Diagnosis and pathogenesis. Arch. Neurol. (Chic.)18, 225–240 (1968)
Austin, J. H., Balasubramanian, A. S., Pattabiraman, T. N., Saraswathi, S., Basu, D. K., Bachhawat, B. K.: A controlled study of enzymatic activities on three human disorders of glycolipid metabolism. J. Neurochem.10, 805–816 (1963)
Betts, T. A., Smith, W. T., Kelly, R. E.: Adult metachromatic leukodystrophy (sulphatid lipidosis) simulating acute schizophrenia. Report of a case. Neurology (Minneap.)18, 1440–1442 (1968)
Brain, W. R., Greenfield, J. G.: Late infantile metachromatic leuko-encephalopathy, with primary degeneration of the interfascicular oligodendroglia. Brain73, 291–317 (1950)
Brion, S., Mikol, J., Graveleau, J.: Leucodystrophie métachromatique de l'adulte jeune. Étude clinique, biologique et ultrastructurale. Rev. neurol.122, 161–176 (1970)
Czmok, E., Regli, F., Bischoff, A., Harzer, K., Benz, H. U.: Metachromatische Leukodystrophie: Klinik und intravitale Diagnostik einer familiären adulten Form der metachromatischen Leukodystrophie (MLD). Z. Neurol.207, 189–204 (1974)
Dayan, D. A.: Peripheral neuropathy of metachromatic leukodystrophy: observation on segmental demyelination and remyelination and the intracellular distribution of sulphatide. J. Neurol. Neurosurg. Psychiat.30, 311–318 (1967)
Gosztonyi, G., Halász, P., Marosi, S., Matuzsinka, F., Nagy, T.: Klinisch-elektroenzephalographische, ultrastrukturelle und histochemische Untersuchungen an einem Fall von adulter metachromatischer Leukodystrophie. Wien. klin. Wschr.84, 432 (1972)
Grégoire, A., Périer, O., Dustin, P., Jr.: Metachromatic leukodystrophy, an electron microscopic study. J. Neuropath. exp. Neurol.25, 617–636 (1966)
v. Hirsch, Th., Peiffer, J.: Über histologische Methoden in der Differenialdiagnose von Leukodystrophien und Lipidosen. Arch. Psychiat. Nervenkr.194, 88–104 (1955)
Kraus-Ruppert, R., Sommer, H.: The late form of metachromatic leukodystrophy. II. Ultrastructural correlations with morphological and neurochemical findings. J. neurol. Sci.7, 383–387 (1972)
Martin, J. J., Joris, C.: The sciatic nerve in juvenile metachromatic leukodystrophy: a quantitative evaluation. Acta neurol. belg.73, 175–191 (1973)
Mei Liu, H.: Ultrastructure of central nervous system lesions in metachromatic leukodystrophy with special reference to morphogenesis. J. Neuropath. exp. Neurol.27, 624–644 (1968)
Mei Liu, H.: Evolution of neuronal changes in metachromatic leukodystrophy. An electron microscopic study. Acta neuropath. (Berl.)23, 133–140 (1973)
Norman, R. M.: Diffuse progressive metachromatic leukoencephalopathy: a form of Schilders disease related to lipidoses. Brain70, 234–250 (1947)
O'Brien, E., Sampson, E.: Myelin membrane: a molecular abnormality. Science150, 1613 to 1614 (1965)
Peiffer, K.: Über die metachromatische Leukodystrophie (Typ Scholz). Arch. Psychiat. Nervenkr.199, 386–416 (1959)
Percy, A. K., McKhan, G. M.: The biochemistry of myelin and the leukodystrophies. In: Hdb. Clin. Neurol., Vol. 10, pp. 134–149. Amsterdam: Elsevier 1971
Pilz, H., Paul, H. A., Müller, D., Volles, E., Hopf, H. C., Prill, A., Kroncke, E.: Metachromatische Leukodystrophie im Erwachsenenalter: Intravitale Diagnose zweier Fälle unter dem klinischen Bild eines presenilen hirnatrophischen Prozesses. Z. Neurol.199, 234–255 (1971)
Porter, M. T., Fluharty, A. L., Trammel, J., Kihara, H.: A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy. Biochem. biophys. Res. Commun.44, 660–666 (1971)
Résibois, A.: Electron microscopic study of metachromatic leukodystrophy. III. Lysosomal nature of the inclusions. Acta neuropath. (Berl.)13, 149–156 (1969)
Roizin, L., Scheinesson, G., Eros, G.: Comparative histological and histochemical studies of infantile and adult metachromatic leukodystrophy. Path. Europ.3, 286–293 (1968)
Sourander, P., Svennerholm, L.: Sulphatide lipidosis in the adult with the clinical picture of progressive organic dementia with epileptic seizures. Acta neuropath. (Berl.)1, 384–396 (1962)
Stumpf, D., Austin, J.: Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulphatase A in different forms of MLD. Arch. Neurol. (Chic.)24, 117–124 (1971)
Suzuki, Y., Mizumo, Y.: Juvenile metachromatic leukodystrophy: Deficiency of an arylsulphatase A component. J. Pediat.85, 823–825 (1974)
Toga, M., Berard-Badier, M., Pinsard, N., Gambarelli, D., Hassoun, J., Tripier, M. F.: Étude clinique, histologique et ultrastructurale de quatre cas de leucodystrophie métachromatique infantile et juvénile. Acta neuropath. (Berl.)21, 23–38 (1972)
Webster, H.: Schwann cell alterations in metachromatic leukodystrophies: preliminary phase and electron microscopic observations. J. Neuropath. exp. Neurol.21, 534–554 (1962)
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Guseo, A., Deák, G. & Szirmai, I. An adult case of metachromatic leukodystrophy. Acta Neuropathol 32, 333–339 (1975). https://doi.org/10.1007/BF00696795
Received:
Accepted:
Issue Date:
DOI: https://doi.org/10.1007/BF00696795