Summary
A typical case of late infantile MLD is presented with all available clinical, morphological and biochemical results. The diagnostical value of the different parameters is evaluated and the pathogenesis of the disorder discussed. In spite of successful experimental enzyme substitution in cultured MLD fibroblasts with restitution of function by added Arylsulfatase, the therapeutic possibilities for the fatal disease in the patients are extremely limited.
Zusammenfassung
An einem typischen Fall von spätinfantiler metachromatischer Leukodystrophie (MLD) werden die klinischen und morphologischen Befunde sowie neuere biochemische Resultate dargestellt. Die Pathogenese der Krankheit wird aus dieser Sicht besprochen. Obwohl an gezüchteten Fibroblasten der Patienten mit MLD der Enzymdefekt und die metabolische Störung korrigiert werden können, sind die therapeutischen Möglichkeiten für diese letale Krankheit sehr beschränkt.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Austin, J. H.: Metachromatic form of diffuse sclerosis. First diagnosis during life by urine sediment examination. Neurology 7, 415 (1957)
Bass, N. H., Witmer, E. J., Dreifuss, F. E.: A pedigree study of metachromatic leucodystrophy: biochemical identification of the carrier state. Neurology 20, 52 (1970)
Baum, H., Dogson, K. S., Spencer, B.: The assay of arylsulfatase A and B in human urine. Clin. chim. Acta 4, 453 (1959)
Greene, H. L., Hug, G., Schubert, W. K.: Metachromatic leucodystrophy: treatment with arylsulfatase A. Arch. Neurol. (Chic.) 20, 147 (1969)
Folch, J., Lees, M., Sloane, S.: A simple method for isolation and purification of total lipids from animal tissues. J. biol. Chem. 226, 497 (1957)
Fratantoni, J. C., Hall, C. W., Neufeld, E. F.: The defect in Hurler's and Hunter's syndromes: Faulty degradation of mucopolysaccharide. Proc. nat. Acad. Sci. (Wash.) 60, 699 (1968)
Hagberg, B.: Clinical symptoms, signs and tests in metachromatic leucodystrophy. Brain lipids and lipoproteins and the leucodystrophies (eds. J. Folch-Pi, H. Bauer), p. 134. Amsterdam: Elsevier 1963
Hagberg, B.: Clinical aspects of globoid cell and metachromatic leucodystrophy. Birth defects: original article series 7, 103 (1971)
Hagberg, B.: Sulfatid-Lipidosen im Kindesalter. Mschr. Kinderheilk. 115, 250 (1967)
Hagberg, B., Oeckerman, P. A.: Metachromatic leucodystrophy: assay of arylsulfatase activities in the urine. Neuropädiatrie 2, 53 (1970)
Kaback, M. M., Howell, R. R.: Infantile metachromatic leucodystrophy: heterozygote detection in skin fibroblasts and possible application to intrauterine diagnosis. New Engl. J. Med. 282, 1336 (1970)
Mastropaolo, C., Pampiglione, G., Stephens, R.: EEG studies in 22 children with metachromatic leucodystrophy. Develop. med. Child. Neurol. 13, 20 (1971)
Melchior, J. C., Clausen, J.: Metachromatic leucodystrophy in early childhood: treatment with a diet deficient in vitamin A. Acta paediat. scand. 57, 2 (1968)
Mosa, A., Dubowitz, V.: Late infantile metachromatic leucodystrophy: effect of low vitamin A diet. Arch. Dis. Childh. 46, 381 (1971)
Moser, H. W.: Sulfatide lipidosis, metachromatic leucodystrophy. In: Stanbury, J. B., Wyngaarden, J. B., Frederickson, D. S., p. 688. New York: Mc Graw-Hill Company 1972
Murphy, J. V., Wolfe, H. J., Balazs, E. A., Moser, H. W.: A patient with deficiency of a A, B, C and steroid sulfatase, associated with storage of sulfatide, cholesterol sulfate and glycosaminoglycans. Lipid storage diseases: enzymatic defects and clinical implications (eds. J. Bernsohn, H. J. Grossman), p. 67. New York: Academic Press 1971
Olsson, Y., Sourander, P.: The reliability of the diagnosis of metachromatic leucodystrophy by peripheral nerve biopsy. Acta paediat. scand. 58, 15 (1969)
Percy, A. K., Brady, R. O.: Metachromatic leucodystrophy: diagnosis with sample of venous blood. Science 161, 594 (1968)
Porter, M. R., Fluharty, A. L., Harris, S. E., Kihara, H.: The accumulation of cerebroside sulfates by fibroblasts in cultures from patients with late infantile metachromatic leucodystrophy. Arch. Biochem. Biophys. 138, 646 (1970)
Tagimuchi, N., Nauba, J.: Enzymatic abnormality of the carrier stage in metachromatic leucodystrophy. Clin. chim. Acta 29, 375 (1970)
Thieffry, S., Lyon, G.: Diagnostic d'un cas de leucodystrophie métachromatique par la biopsie d'un nerf périphérique. Rev. neurol. 100, 452 (1959)
Wiesmann, U. N., Rossi, E., Herschkowitz, N.: Correction of the defective sulfatide degradation in cultured fibroblasts from patients with metachromatic leucodystrophy. Acta paediat. scand. 61, 296 (1972)
Wiesmann, U. N., Vassella, F., Herschkowitz, N.: Mucolipidosis II (I-cell disease) a clinical and biochemical study. Acta paediat. scand. 63, 9 (1974)
Wiesmann, U. N., Meier, C., Spycher, M. A., Schmid, W., Bischoff, A., Gautier, E., Herschkowitz, N.: Prenatal metachromatic leucodystrophy. Helv. paediat. Acta 30, 31 (1975)
Author information
Authors and Affiliations
Additional information
Supported by the Swiss National Foundation Grant Numbers 369.71, 3.327.0.74, 4.0620.72, 3.302.0.74.
Rights and permissions
About this article
Cite this article
Rossi, L.N., Vassella, F., Bischoff, A. et al. Late infantile metachromatic leucodystrophy (MLD). J. Neurol. 210, 291–298 (1975). https://doi.org/10.1007/BF00316530
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00316530