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Lysosomal Storage Disorders: Diagnosis by Ultrastructural Examination of Skin Biopsy Specimens

Lysosomal Storage Disorders: Diagnosis by Ultrastructural Examination of Skin Biopsy Specimens Abstract • Fifteen patients with lysosomal storage diseases were studied. Diagnoses of their illnesses included infantile Gaucher disease; Krabbe disease; Niemann-Pick disease, type A; glycogen storage disease, type 2; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM, gangliosidosis, type 1; Hurler disease; and Sanfilippo disease, types A and B. We carried out ultrastructural examinations of skin biopsy specimens that were taken to establish a cultured fibroblast line on each patient. We found diagnostic storage inclusions in all patients except those with infantile Gaucher disease, Krabbe disease, and Spielmeyer-Vogt disease. This technique can be carried out on a specimen obtained by a primary physician on an out-patient basis, thus avoiding major surgery. References 1. O'Brien JS: Genetic defects of lysosomal enzymes , in de Grouchy J (ed): Human Genetics . Amsterdam, Excerpta Medica, 1972, pp 286-299. 2. Fratantoni JC, Hall C, Neufeld EC: The defect in Hurler and Hunter syndromes: II. Deficiency of specific factors involved in mucopolysaccharide degradation . Proc Nati Acad Sci USA 64:360-366, 1969.Crossref 3. O'Brien JS: Sanfilippo syndrome: Profound deficiency of a-acetylglucosaminidase activity in organs and skin fibroblasts from type B patients . Proc Nati Acad Sci USA 69:1720-1722, 1972.Crossref 4. Schochet SS, Hardman JM, Lampert PW, et al: Krabbe's disease (globoid leucodystrophy): Electron microscopic observations . Arch Pathol 88:305-313, 1969. 5. Lynn R, Terry RD: Lipid histochemistry and electron microscopy in adult Niemann-Pick disease . Am J Med 37:987-994, 1964.Crossref 6. Wallace BJ, Lazarus SS, Volk BW: Electron microscopic and histochemical studies of viscera in lipidoses , in Aronson SM, Volk BW (eds): Inborn Disorders of Sphingolipid Metabolism . Oxford, England, Pergamon Press Inc, 1967, pp 107-120. 7. Lazarus SS, Vethamany VG, Schneck L, et al: Fine structure and histochemistry of peripheral blood cells in Niemann-Pick disease . Lab Invest 17:155-170, 1967. 8. Crocker AC, Farber S: Niemann-Pick disease: A review of 18 patients . Medicine 37:1-95, 1958.Crossref 9. Baudhuin P, Hers HG, Loeb H: An electron microscopic and biochemical study of type II glycogenosis . Lab Invest 13:1139-1152, 1964. 10. Hashimoto K, Gross BG, Lever WF: Angiokeratoma corporis diffusum (Fabry): Histochemical and electron microscopic studies of the skin . J Invest Dermatol 44:119-128, 1965. 11. Frost P, Tanaka Y, Spaeth GL: Fabry's disease: Glycolipid lipidosis . Am J Med 40:618-627, 1966.Crossref 12. Scott CR, Lagunoff D, Trump BF: Familial neurovisceral lipidosis . J Pediatr 71:357-366, 1967.Crossref 13. Van Hoof F, Hers HG: L'ultrastructure des cellules hepatiques dans la maladie de Hurler (gargoylisme) . C R Acad Sci 259:1281-1290, 1964. 14. Lagunoff D, Gritzka TL: The site of mucopolysaccharide acummulation in Hurler's syndrome: An electron microscopic and histochemical study . Lab Invest 15:1578-1588, 1966. 15. Wallace BW, Kaplan D, Adachi M, et al: Mucopolysaccharidosis type III: Morphologic and biochemical studies of two siblings with Sanfilippo syndrome . Arch Pathol 82:462-473, 1966. 16. Haust MD, Gordon BA, Bryans AM, et al: Heparatin sulfate mucopolysaccharidosis (Sanfilippo disease): A case study with ultrastructural, biochemical and radiological findings . Pediatr Res 5:137-150, 1971.Crossref 17. Spranger J: The systemic mucopolysaccharidoses . Ergeb Inn Med Kinderheilkd 32:165-265, 1972. 18. Carpenter S, Karpati G, Andermann F: Specific involvement of muscle, nerve and skin in late infantile and juvenile amaurotic idiocy . Neurology 22:170-186, 1972.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Lysosomal Storage Disorders: Diagnosis by Ultrastructural Examination of Skin Biopsy Specimens

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Publisher
American Medical Association
Copyright
Copyright © 1975 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1975.00490510048002
Publisher site
See Article on Publisher Site

Abstract

Abstract • Fifteen patients with lysosomal storage diseases were studied. Diagnoses of their illnesses included infantile Gaucher disease; Krabbe disease; Niemann-Pick disease, type A; glycogen storage disease, type 2; Fabry disease, Jansky-Bielschowsky and Spielmeyer-Vogt types of amaurotic idiocy, GM, gangliosidosis, type 1; Hurler disease; and Sanfilippo disease, types A and B. We carried out ultrastructural examinations of skin biopsy specimens that were taken to establish a cultured fibroblast line on each patient. We found diagnostic storage inclusions in all patients except those with infantile Gaucher disease, Krabbe disease, and Spielmeyer-Vogt disease. This technique can be carried out on a specimen obtained by a primary physician on an out-patient basis, thus avoiding major surgery. References 1. O'Brien JS: Genetic defects of lysosomal enzymes , in de Grouchy J (ed): Human Genetics . Amsterdam, Excerpta Medica, 1972, pp 286-299. 2. Fratantoni JC, Hall C, Neufeld EC: The defect in Hurler and Hunter syndromes: II. Deficiency of specific factors involved in mucopolysaccharide degradation . Proc Nati Acad Sci USA 64:360-366, 1969.Crossref 3. O'Brien JS: Sanfilippo syndrome: Profound deficiency of a-acetylglucosaminidase activity in organs and skin fibroblasts from type B patients . Proc Nati Acad Sci USA 69:1720-1722, 1972.Crossref 4. Schochet SS, Hardman JM, Lampert PW, et al: Krabbe's disease (globoid leucodystrophy): Electron microscopic observations . Arch Pathol 88:305-313, 1969. 5. Lynn R, Terry RD: Lipid histochemistry and electron microscopy in adult Niemann-Pick disease . Am J Med 37:987-994, 1964.Crossref 6. Wallace BJ, Lazarus SS, Volk BW: Electron microscopic and histochemical studies of viscera in lipidoses , in Aronson SM, Volk BW (eds): Inborn Disorders of Sphingolipid Metabolism . Oxford, England, Pergamon Press Inc, 1967, pp 107-120. 7. Lazarus SS, Vethamany VG, Schneck L, et al: Fine structure and histochemistry of peripheral blood cells in Niemann-Pick disease . Lab Invest 17:155-170, 1967. 8. Crocker AC, Farber S: Niemann-Pick disease: A review of 18 patients . Medicine 37:1-95, 1958.Crossref 9. Baudhuin P, Hers HG, Loeb H: An electron microscopic and biochemical study of type II glycogenosis . Lab Invest 13:1139-1152, 1964. 10. Hashimoto K, Gross BG, Lever WF: Angiokeratoma corporis diffusum (Fabry): Histochemical and electron microscopic studies of the skin . J Invest Dermatol 44:119-128, 1965. 11. Frost P, Tanaka Y, Spaeth GL: Fabry's disease: Glycolipid lipidosis . Am J Med 40:618-627, 1966.Crossref 12. Scott CR, Lagunoff D, Trump BF: Familial neurovisceral lipidosis . J Pediatr 71:357-366, 1967.Crossref 13. Van Hoof F, Hers HG: L'ultrastructure des cellules hepatiques dans la maladie de Hurler (gargoylisme) . C R Acad Sci 259:1281-1290, 1964. 14. Lagunoff D, Gritzka TL: The site of mucopolysaccharide acummulation in Hurler's syndrome: An electron microscopic and histochemical study . Lab Invest 15:1578-1588, 1966. 15. Wallace BW, Kaplan D, Adachi M, et al: Mucopolysaccharidosis type III: Morphologic and biochemical studies of two siblings with Sanfilippo syndrome . Arch Pathol 82:462-473, 1966. 16. Haust MD, Gordon BA, Bryans AM, et al: Heparatin sulfate mucopolysaccharidosis (Sanfilippo disease): A case study with ultrastructural, biochemical and radiological findings . Pediatr Res 5:137-150, 1971.Crossref 17. Spranger J: The systemic mucopolysaccharidoses . Ergeb Inn Med Kinderheilkd 32:165-265, 1972. 18. Carpenter S, Karpati G, Andermann F: Specific involvement of muscle, nerve and skin in late infantile and juvenile amaurotic idiocy . Neurology 22:170-186, 1972.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Sep 1, 1975

References