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Pathologic Findings in Fetal GM1 Gangliosidosis

Pathologic Findings in Fetal GM1 Gangliosidosis Abstract • A 24-week fetus with GM1 gangliosidosis (type 1) was studied using biochemical and histopathologic methods. Foam cells in viscera and placenta demonstrated widespread accumulation of a lipidlike material. By microscopy, central nervous system storage appeared confined to the retina and dorsal root ganglia, but the brain ganglioside content was measurably elevated compared with that of age-matched controls. These data, along with those of others, imply that, if the observed pathologic findings are irreversible, any attempts at intrauterine therapy must commence prior to the middle of the second trimester. References 1. O'Brien JS: The gangliosidoses , in Stanbury JB, Wyngarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 5. New York, McGraw-Hill International Book Co, 1984, chap 46. 2. Kolodny EH, Cable WJL: Inborn errors of metabolism . Ann Neurol 1982;11:221-232.Crossref 3. Warner TG, Robertson AD, Mock AK, et al: Prenatal diagnosis of GM, gangliosidosis by detection of galactosyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography . Am J Hum Genet 1983;35:1034-1041. 4. Kolodny EH, Mumford RA: Human leukocyte acid hydrolases: Characterization of 11 lysosomal enzymes and study of reaction conditions for their automated analysis . Clin Chim Acta 1976;70:246-257.Crossref 5. High OB: Lipids , in Bancroft JD, Stevens A (eds): Theory and Practice of Histological Techniques . New York, Churchill Livingstone Inc, 1977, chap 12. 6. Cogan DG, Kuwabara T, Kolodny E, et al: Gangliosidosis and the fetal retina . Ophthalmology 1984;91:508-512.Crossref 7. Barranger JA, Brady RO: Feasibility of enzyme replacement in brain: An overview , in Watts RWE, d' A Crawford M, Gibbs DA (eds): Advances in the Treatment of Inborn Errors of Metabolism . New York, John Wiley & Sons Inc, 1982, pp 245-258. 8. Neuwelt EA, Barranger JA, Pagel MA, et al: Delivery of hexosaminidase across the blood-brain barrier in rats . Neurology 1984;34:1012-1019.Crossref 9. Rappaport JM, Ginns EI: Bone-marrow transplantation in severe Gaucher's disease . N Engl J Med 1984;311:84-88.Crossref 10. Lowden JA, Cutz E, Conen PE, et al: Prenatal diagnosis of GM, gangliosidosis . N Engl J Med 1973;288:225-228.Crossref 11. Percy AK, McCormick UM, Kaback MM, et al: Ultrastructure manifestations of GM, and GM2 gangliosidosis in fetal tissues . Arch Neurol 1973;28:417-419.Crossref 12. Kaback MM, Sloan HR, Sonneborn M, et al: GM, gangliosidosis type I: In utero detection and fetal manifestations . J Pediatr 1973;82:1037-1041.Crossref 13. Booth CW, Gerbie AB, Nadler HL: Intrauterine detection of GM, gangliosidosis, type 2 . Pediatrics 1973;52:521-524. 14. Yamano T, Shimada M, Okada S, et al: Ultrastructural study on nervous system of fetus with GM, gangliosidosis type I . Acta Neuropathol 1983;61:15-20.Crossref 15. Kudoh T, Kikuchi K, Nakamura F, et al: Prenatal diagnosis of GM, gangliosidosis: Biochemical manifestations in fetal tissues . Hum Genet 1978;44:287-293.Crossref 16. Svennerholm L: Quantitative estimation of sialic acids: II. A colorimetric resorcinol-hydrochloric acid method . Biochim Biophys Acta 1957;24:604-611.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1986 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1986.00520070090027
Publisher site
See Article on Publisher Site

Abstract

Abstract • A 24-week fetus with GM1 gangliosidosis (type 1) was studied using biochemical and histopathologic methods. Foam cells in viscera and placenta demonstrated widespread accumulation of a lipidlike material. By microscopy, central nervous system storage appeared confined to the retina and dorsal root ganglia, but the brain ganglioside content was measurably elevated compared with that of age-matched controls. These data, along with those of others, imply that, if the observed pathologic findings are irreversible, any attempts at intrauterine therapy must commence prior to the middle of the second trimester. References 1. O'Brien JS: The gangliosidoses , in Stanbury JB, Wyngarden JB, Fredrickson DS (eds): The Metabolic Basis of Inherited Disease , ed 5. New York, McGraw-Hill International Book Co, 1984, chap 46. 2. Kolodny EH, Cable WJL: Inborn errors of metabolism . Ann Neurol 1982;11:221-232.Crossref 3. Warner TG, Robertson AD, Mock AK, et al: Prenatal diagnosis of GM, gangliosidosis by detection of galactosyl-oligosaccharides in amniotic fluid with high-performance liquid chromatography . Am J Hum Genet 1983;35:1034-1041. 4. Kolodny EH, Mumford RA: Human leukocyte acid hydrolases: Characterization of 11 lysosomal enzymes and study of reaction conditions for their automated analysis . Clin Chim Acta 1976;70:246-257.Crossref 5. High OB: Lipids , in Bancroft JD, Stevens A (eds): Theory and Practice of Histological Techniques . New York, Churchill Livingstone Inc, 1977, chap 12. 6. Cogan DG, Kuwabara T, Kolodny E, et al: Gangliosidosis and the fetal retina . Ophthalmology 1984;91:508-512.Crossref 7. Barranger JA, Brady RO: Feasibility of enzyme replacement in brain: An overview , in Watts RWE, d' A Crawford M, Gibbs DA (eds): Advances in the Treatment of Inborn Errors of Metabolism . New York, John Wiley & Sons Inc, 1982, pp 245-258. 8. Neuwelt EA, Barranger JA, Pagel MA, et al: Delivery of hexosaminidase across the blood-brain barrier in rats . Neurology 1984;34:1012-1019.Crossref 9. Rappaport JM, Ginns EI: Bone-marrow transplantation in severe Gaucher's disease . N Engl J Med 1984;311:84-88.Crossref 10. Lowden JA, Cutz E, Conen PE, et al: Prenatal diagnosis of GM, gangliosidosis . N Engl J Med 1973;288:225-228.Crossref 11. Percy AK, McCormick UM, Kaback MM, et al: Ultrastructure manifestations of GM, and GM2 gangliosidosis in fetal tissues . Arch Neurol 1973;28:417-419.Crossref 12. Kaback MM, Sloan HR, Sonneborn M, et al: GM, gangliosidosis type I: In utero detection and fetal manifestations . J Pediatr 1973;82:1037-1041.Crossref 13. Booth CW, Gerbie AB, Nadler HL: Intrauterine detection of GM, gangliosidosis, type 2 . Pediatrics 1973;52:521-524. 14. Yamano T, Shimada M, Okada S, et al: Ultrastructural study on nervous system of fetus with GM, gangliosidosis type I . Acta Neuropathol 1983;61:15-20.Crossref 15. Kudoh T, Kikuchi K, Nakamura F, et al: Prenatal diagnosis of GM, gangliosidosis: Biochemical manifestations in fetal tissues . Hum Genet 1978;44:287-293.Crossref 16. Svennerholm L: Quantitative estimation of sialic acids: II. A colorimetric resorcinol-hydrochloric acid method . Biochim Biophys Acta 1957;24:604-611.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Jul 1, 1986

References