Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 7-Day Trial for You or Your Team.

Learn More →

Acanthocytosis Without

Acanthocytosis Without Abstract IN THE Bassen-Kornzweig syndrome,1-6 thorny malformation of the erythrocytes (acanthocytes), a disease which begins in childhood, is associated with progressive ataxia; atypical retinitis pigmentosa; muscle wasting; steatorrhea, which may appear only in early life; and biochemical abnormalities. The serum levels for cholesterol, carotenoids, vitamin A, and phospholipids are invariably depressed, and the β-lipoprotein moiety is absent. This syndrome appears to be the expression of an autosomal recessive gene. The family described in this paper is not the first in which acanthocytosis in an adult has been reported in conjunction with neurological disease, but the neurological manifestations are dissimilar to those of the Bassen-Kornzweig syndrome, and the biochemical abnormalities of that syndrome are not present. Kuo and Bassett in 19627 reported steatorrhea, acanthocytosis, and neuropathy in a man aged 41, but the nature of the neuropathy was not commented upon. Kahan et al, 1963,8,9 found "acquired" acanthocytosis References 1. Bassen, F.A., and Kornzweig, A.L.: Malformation of the Erythrocytes in a Case of Atypical Retinitis Pigmentosa , Blood 5:381-387, 1950. 2. Singer, K.; Fisher, B.; and Perlstein, M.A.: Acanthrocytosis: Genetic Erythrocytic Malformation , Blood 7:577-591, 1952. 3. Salt, H.B., et al: On Having No Beta-lipoprotein: A Syndrome Comprising A-beta-lipoproteinaemia, Acanthocytosis, and Steatorrhea , Lancet 2:325-329, 1960.Crossref 4. Mier, M.; Schwartz, S.O.; and Boshes, B.: Acanthrocytosis, Pigmentary Degeneration of the Retina and Ataxic Neuropathy: A Genetically Determined Syndrome With Associated Metabolic Disorder , Blood 16:1586-1608, 1960. 5. Schwartz, J.F., et al: Bassen-Kornzweig Syndrome: Deficiency of Serum β-Lipoprotein , Arch Neurol 8:438-454, 1963.Crossref 6. Sobrevilla, L.A.; Goodman, M.L.; and Kane, C.A.: Demyelinating Central Nervous System Disease, Macular Atrophy and Acanthocytosis: (Bassen-Kornzweig Syndrome) , Amer J Med 37:821-828, 1964.Crossref 7. Kuo, P.T., and Bassett, D.R.: Blood and Tissue Lipids in a Family With Hypobetalipoproteinemia , Circulation 22:660, 1962. 8. Kahan, A.; Kahan, I.L.; and Benko, A.: Erythrocytic Anomalies in Hereditary Vitreo-retinal Degeneration (Degeneratio Hyaloideoretinalis) , Brit J Ophthal 47:620-631, 1963.Crossref 9. Kahan, A.; Kahan, I.L.; and Benko, A.: Acquired Acanthocytosis and Myelophthisis in a Case of Eales's Disease , Brit J Ophthal 47:632-637, 1963.Crossref 10. Becroft, D.M.O.; Costello, J.M.; and Scott, P.J.: Acanthocytosis in a 17-year-old Maori , Arch Dis Child 40:40-46, 1965.Crossref 11. Lewis, L.A., et al: Lipid and Cytological Abnormalities in Familial Hypobetalipoproteinemia , Circulation 34( (suppl 3) ):19 (No 4) 1966. 12. Mars, H., et al: Familial Hypobetalipoproteinemia With Neurologic Manifestations , Neurology 16:285, 1967. 13. Tuffy, P.; Brown, A.K.; and Zuelger, W.W.: Infantile Pyknocytosis: A Common Erythrocytic Abnormality of the First Trimester , Amer J Dis Child 98:227-241, 1959.Crossref 14. Smith, J.A.; Lonergan, E.T.; and Sterling, K.: Spur Cell Anemia: Hemolytic Anemia With Red Cells Resembling Acanthocytes in Alcoholic Cirrhosis , New Eng J Med 271:396-398, 1964.Crossref 15. Dacie, J.V.: The Haemolytic Anaemias: Congenital and Acquired , London: J. & A. Churchill, Ltd, 1954. 16. Oski, F.A., et al: Extreme Hemolysis and Red Cell Distortion in Erythrocytic Pyruvate Kinase Deficiency , New Eng J Med 270:1027-1029, 1964.Crossref 17. DiGeorge, A.M.; Mabry, C.C.; and Auerbach, V.H.: A Specific Disorder of Lipid Transport (Acanthocytosis): Treated With Intravenous Lipids , Amer J Dis Child 102:580, 1961. 18. Wolff, J.A., and Bauman, W.A.: Studies Concerning Acanthocytosis: A New Genetic Syndrome With Absent β-lipoprotein , Amer J Dis Child 102:478-479, 1961. 19. Sansone, G.; Piga, A.M.; and Segni, G.: Il Favismo, Torino Edizioni, Minerva Med , monograph, 1958. 20. Tolentino, P.; Spirito, L.; and Jannuzzi, C.: Celiac Syndrome, Retinal Dystrophy, Acanthocytosis Without Absence of Beta-lipoprotein , Ann Paediat 203:178-186, 1964. 21. Hadnagy, C.S., et al: Lipid Contents of the Newborn's Blood , Biol Neonat 5:390-394, 1963.Crossref 22. Crowley, J., and Ways, P.: Fetal Lipid , Clin Res 12:222, 1964. 23. Jampell, R.S., and Falls, H.F.: Atypical Retinitis Pigmentosa, Acanthocytosis and Heredodegenerative Neuromuscular Disease , Arch Ophthal 59:818-820, 1958.Crossref 24. Switzer, S., and Eder, H.A.: Interconversion of Acanthocytes and Normal Erythrocytes With Detergents , J Clin Invest 41:1404, 1962. 25. Hooft, C., et al: Familial Hypolipidemia and Retarded Development Without Steatorrhea , Helv Paediat Acta 17:1-23, 1962. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Acanthocytosis Without

Download PDF
7 pages

Loading next page...
 
/lp/american-medical-association/acanthocytosis-without-S00WBkfqZ4

References (25)

Publisher
American Medical Association
Copyright
Copyright © 1968 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1968.00470320036004
Publisher site
See Article on Publisher Site

Abstract

Abstract IN THE Bassen-Kornzweig syndrome,1-6 thorny malformation of the erythrocytes (acanthocytes), a disease which begins in childhood, is associated with progressive ataxia; atypical retinitis pigmentosa; muscle wasting; steatorrhea, which may appear only in early life; and biochemical abnormalities. The serum levels for cholesterol, carotenoids, vitamin A, and phospholipids are invariably depressed, and the β-lipoprotein moiety is absent. This syndrome appears to be the expression of an autosomal recessive gene. The family described in this paper is not the first in which acanthocytosis in an adult has been reported in conjunction with neurological disease, but the neurological manifestations are dissimilar to those of the Bassen-Kornzweig syndrome, and the biochemical abnormalities of that syndrome are not present. Kuo and Bassett in 19627 reported steatorrhea, acanthocytosis, and neuropathy in a man aged 41, but the nature of the neuropathy was not commented upon. Kahan et al, 1963,8,9 found "acquired" acanthocytosis References 1. Bassen, F.A., and Kornzweig, A.L.: Malformation of the Erythrocytes in a Case of Atypical Retinitis Pigmentosa , Blood 5:381-387, 1950. 2. Singer, K.; Fisher, B.; and Perlstein, M.A.: Acanthrocytosis: Genetic Erythrocytic Malformation , Blood 7:577-591, 1952. 3. Salt, H.B., et al: On Having No Beta-lipoprotein: A Syndrome Comprising A-beta-lipoproteinaemia, Acanthocytosis, and Steatorrhea , Lancet 2:325-329, 1960.Crossref 4. Mier, M.; Schwartz, S.O.; and Boshes, B.: Acanthrocytosis, Pigmentary Degeneration of the Retina and Ataxic Neuropathy: A Genetically Determined Syndrome With Associated Metabolic Disorder , Blood 16:1586-1608, 1960. 5. Schwartz, J.F., et al: Bassen-Kornzweig Syndrome: Deficiency of Serum β-Lipoprotein , Arch Neurol 8:438-454, 1963.Crossref 6. Sobrevilla, L.A.; Goodman, M.L.; and Kane, C.A.: Demyelinating Central Nervous System Disease, Macular Atrophy and Acanthocytosis: (Bassen-Kornzweig Syndrome) , Amer J Med 37:821-828, 1964.Crossref 7. Kuo, P.T., and Bassett, D.R.: Blood and Tissue Lipids in a Family With Hypobetalipoproteinemia , Circulation 22:660, 1962. 8. Kahan, A.; Kahan, I.L.; and Benko, A.: Erythrocytic Anomalies in Hereditary Vitreo-retinal Degeneration (Degeneratio Hyaloideoretinalis) , Brit J Ophthal 47:620-631, 1963.Crossref 9. Kahan, A.; Kahan, I.L.; and Benko, A.: Acquired Acanthocytosis and Myelophthisis in a Case of Eales's Disease , Brit J Ophthal 47:632-637, 1963.Crossref 10. Becroft, D.M.O.; Costello, J.M.; and Scott, P.J.: Acanthocytosis in a 17-year-old Maori , Arch Dis Child 40:40-46, 1965.Crossref 11. Lewis, L.A., et al: Lipid and Cytological Abnormalities in Familial Hypobetalipoproteinemia , Circulation 34( (suppl 3) ):19 (No 4) 1966. 12. Mars, H., et al: Familial Hypobetalipoproteinemia With Neurologic Manifestations , Neurology 16:285, 1967. 13. Tuffy, P.; Brown, A.K.; and Zuelger, W.W.: Infantile Pyknocytosis: A Common Erythrocytic Abnormality of the First Trimester , Amer J Dis Child 98:227-241, 1959.Crossref 14. Smith, J.A.; Lonergan, E.T.; and Sterling, K.: Spur Cell Anemia: Hemolytic Anemia With Red Cells Resembling Acanthocytes in Alcoholic Cirrhosis , New Eng J Med 271:396-398, 1964.Crossref 15. Dacie, J.V.: The Haemolytic Anaemias: Congenital and Acquired , London: J. & A. Churchill, Ltd, 1954. 16. Oski, F.A., et al: Extreme Hemolysis and Red Cell Distortion in Erythrocytic Pyruvate Kinase Deficiency , New Eng J Med 270:1027-1029, 1964.Crossref 17. DiGeorge, A.M.; Mabry, C.C.; and Auerbach, V.H.: A Specific Disorder of Lipid Transport (Acanthocytosis): Treated With Intravenous Lipids , Amer J Dis Child 102:580, 1961. 18. Wolff, J.A., and Bauman, W.A.: Studies Concerning Acanthocytosis: A New Genetic Syndrome With Absent β-lipoprotein , Amer J Dis Child 102:478-479, 1961. 19. Sansone, G.; Piga, A.M.; and Segni, G.: Il Favismo, Torino Edizioni, Minerva Med , monograph, 1958. 20. Tolentino, P.; Spirito, L.; and Jannuzzi, C.: Celiac Syndrome, Retinal Dystrophy, Acanthocytosis Without Absence of Beta-lipoprotein , Ann Paediat 203:178-186, 1964. 21. Hadnagy, C.S., et al: Lipid Contents of the Newborn's Blood , Biol Neonat 5:390-394, 1963.Crossref 22. Crowley, J., and Ways, P.: Fetal Lipid , Clin Res 12:222, 1964. 23. Jampell, R.S., and Falls, H.F.: Atypical Retinitis Pigmentosa, Acanthocytosis and Heredodegenerative Neuromuscular Disease , Arch Ophthal 59:818-820, 1958.Crossref 24. Switzer, S., and Eder, H.A.: Interconversion of Acanthocytes and Normal Erythrocytes With Detergents , J Clin Invest 41:1404, 1962. 25. Hooft, C., et al: Familial Hypolipidemia and Retarded Development Without Steatorrhea , Helv Paediat Acta 17:1-23, 1962.

Journal

Archives of Neurology – American Medical Association

Published: Feb 1, 1968

There are no references for this article.