Abstract
Gaucher’s disease results from genetically determined abnormal metabolism of glucocerebroside, leading to its accumulation in tissue throughout the body. It is not a common disease, but is one of the more frequently encountered sphingolipidoses. At least three different subtypes of Gaucher’s disease are now known. Numerical nomenclature is sometimes confusing, but according to Fredrickson (8), type I or adult form is to be called a prototype of Gaucher’s disease usually lacking a neurological impairment. Type II or acute infantile form is characterized by a rapidly progressive neurological disorder. The third type is juvenile form, and, although less delineated, is known by later onset and slower progressive course than type M. As a basic metabolic defect, the deficient activity of a specific β-glucosidase is responsible for abnormal accumulation of glucocerebros ide (3)
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References
Adachi, M., Wallace, B. J., Schneck, L., et al.: Fine structure of central nervous system in early infantile Gaucher’s disease. Arch. Path. 83: 513, 1967.
Banker, B. Q., Miller, J. Q., and Crocker, A. C.: The cerebral pathology of infantile Gaucher’s disease, in Cerebral Sphingolipidoses: A Symposium on Tay-Sachs’ Disease and Allied Disorders, Aronson, S. M. and Volk, B. W. (eds.), New York: Academic Press, Inc., 1962, pp 73–99.
Brady, R. O., and King, F. M.: Gaucher’s disease, in Lysosomes and Storage Diseases, Hers, H. G. and van Hoof, F. (eds.), New York and London: Academic Press, Inc., 1973, pp 381–394.
Dorfman, A.: Antenatal Diagnos is. University of Chicago Press, Chicago and London, 1972.
Eguchi, M., Komiyama, A., Tsukada, M., et al.: The electron microscopic observation of Gaucher cells — Ultrastructure and acid phosphatase activity-. Med. J. Shinshu Univ., 17: 147, 1973.
Ellis, W. G., Schneider, E. L., McCulloch, J. R., et al.: Fetal globoid cell leukodystrophy (Krabbe disease). Pathological and biochemical examination. Arch. Neurol. 29: 253, 1973.
Fisher, E. R., and Reidbord, H.: Gaucher’s disease: Pathogenetic considerations based on electron microscopic and histochemical observations. Am. J. Path. 41: 679, 1962.
Fredrickson, D. S., and Sloan, H. R.: Glucosyl ceramide lipidoses: Gaucher’s disease, in The Metabolic Basis of Inherited Disease, Stanbury, J. B., Wyngaarden, J. B., and Fredrickson, D. S. (eds.), 3rd ed., New York etc., McGraw-Hill Book Co., 1972, pp 730–759.
Hibbs, R. G., Ferrans, V. J., Cipriano, P. R., et al.: A histochemical and electron microscopic study of Gaucher cells. Arch. Path. 89: 137, 1970.
Inose, T., Inoue, K., Sawaizumi, S. et al.: Beitrag zur Neuropathologie des Morbus Gaucher im Kindesalter. Acta Neuropath. 3: 297, 1964.
Kaback, M. M., Sloan, H. R., Sonneborn, M.,: et al.: GM1-gangliosidosis type I: In utero detection and fetal manifestations. J. Pediat. 82: 1037, 1973.
Kitagawa, T., Owada, M., Sakiyama, T., et al.: Neuropathic Gaucher’s disease: In utero diagnosis and fetal biochemistry and pathology. To be published.
Leroy, J. G., Van Elsen, A. F., Martin, J. J., et al.: Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis. New Eng. J. Med. 288: 1365, 1973.
Lowden, J. A., Cutz, E., Conen, P. E., et al.: Prenatal diagnosis of GM1-gangliosidosis. New Eng. J. Med. 288: 225, 1973.
O’Brien, J. S., Okada, S., Rillerup, D. L., et al.: Tay-Sachs disease: Prenatal diagnosis. Science 172: 61, 1971.
Schneck, L., Adachi, M., and Volk, B. W.: The fetal aspects of Tay-Sachs disease. Pediatrics 49: 342, 1972.
Schneider, E. L., Ellis, W. G., Brady, R. O., et al.: Prenatal Niemann-Pick disease: Biochemical and histological examination of a 19-gestational week fetus. Pediatr. Res. 6: 720, 1972.
Schneider, E. L., Ellis, W. G., Brady, R. O., et al.: Infantile (type II) Gaucher’s disease: In utero diagnosis and fetal pathology. J. Pediat. 81: 1134, 1972.
Seitelberger, F.: Uber die Gehirnbeteiligung bei der Gaucherschen Krankheit im Kindesalter. Archiv f. Psychiat. u. Zeitsch. ges. Neurol. 206: 419, 1964.
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Kamoshita, S., Odawara, M., Yoshida, M., Owada, M., Kitagawa, T. (1976). Fetal Pathology and Ultrastructure of Neuropathic Gaucher’s Disease. In: Volk, B.W., Schneck, L. (eds) Current Trends in Sphingolipidoses and Allied Disorders. Advances in Experimental Medicine and Biology, vol 68. Springer, Boston, MA. https://doi.org/10.1007/978-1-4684-7735-1_5
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DOI: https://doi.org/10.1007/978-1-4684-7735-1_5
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