Skip to main content
NCBI home page
Archives of Disease in Childhood logoLink to Archives of Disease in Childhood
. 1965 Feb;40(209):40–46. doi: 10.1136/adc.40.209.40

A-β-lipoproteinaemia (Bassen-Kornzweig Syndrome)

Report of a Case

D M O Becroft, J M Costello, P J Scott
PMCID: PMC2019261  PMID: 14259270

Full text

PDF
40

Images in this article

41Fig. 1
on p.41
41Fig. 2
on p.41

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. AHERNE W. A. The burr red cell and azotaemia. J Clin Pathol. 1957 Aug;10(3):252–257. doi: 10.1136/jcp.10.3.252. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. ALLISON A. C. Acute haemolytic anaemia with distortion and fragmentation of erythrocytes in children. Br J Haematol. 1957 Jan;3(1):1–18. doi: 10.1111/j.1365-2141.1957.tb05767.x. [DOI] [PubMed] [Google Scholar]
  3. BASSEN F. A., KORNZWEIG A. L. Malformation of the erythrocytes in a case of atypical retinitis pigmentosa. Blood. 1950 Apr;5(4):381–387. [PubMed] [Google Scholar]
  4. BLUMBERG B. S., BERNANKE D., ALLISON A. C. A human lipoprotein polymorphism. J Clin Invest. 1962 Oct;41:1936–1944. doi: 10.1172/JCI104651. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. BRAIN M. C., DACIE J. V., HOURIHANE D. O. Microangiopathic haemolytic anaemia: the possible role of vascular lesions in pathogenesis. Br J Haematol. 1962 Oct;8:358–374. doi: 10.1111/j.1365-2141.1962.tb06541.x. [DOI] [PubMed] [Google Scholar]
  6. DACIE J. V., MOLLISON P. L., RICHARDSON N., SELWYN J. G., SHAPIRO L. Atypical congenital haemolytic anaemia. Q J Med. 1953 Jan;22(85):79–98. [PubMed] [Google Scholar]
  7. DRUEZ G. Un nouveau cas d'acanthocytose: dysmorphie érythrocytaire congénitale avec rétinite, troubles nerveux et stigmates dégénératifs. Rev Hematol. 1959 Jan-Mar;14(1):3–11. [PubMed] [Google Scholar]
  8. FRIEDMAN I. S., COHN H., ZYMARIS M., GOLDNER M. G. Hypocholesteremia in idiopathic steatorrhea with report of a case of profound hypocholesteremia of lifelong standing. Arch Intern Med. 1960 Jan;105:112–120. [PubMed] [Google Scholar]
  9. HAVEL R. J., EDER H. A., BRAGDON J. H. The distribution and chemical composition of ultracentrifugally separated lipoproteins in human serum. J Clin Invest. 1955 Sep;34(9):1345–1353. doi: 10.1172/JCI103182. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. JAMPEL R. S., FALLS H. F. Atypical retinitis pigmentosa, acanthrocytosis, and heredodegenerative neuromuscular disease. AMA Arch Ophthalmol. 1958 Jun;59(6):818–820. doi: 10.1001/archopht.1958.00940070032002. [DOI] [PubMed] [Google Scholar]
  11. KAHAN A., KAHAN I. L., BENKO A. ACQUIRED ACANTHOCYTOSIS AND MYELOPHTHISIS IN A CASE OF EALES'S DISEASE. Br J Ophthalmol. 1963 Oct;47:632–637. doi: 10.1136/bjo.47.10.632. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. KORNZWEIG A. L., BASSEN F. A. Retinitis pigmentosa, acanthrocytosis, and heredodegenerative neuromuscular disease. AMA Arch Ophthalmol. 1957 Aug;58(2):183–187. doi: 10.1001/archopht.1957.00940010195004. [DOI] [PubMed] [Google Scholar]
  13. LAMY M., FREZAL J., POLONOVSKI J., DRUEZ G., REY J. Congenital absence of beta-lipoproteins. Pediatrics. 1963 Feb;31:277–289. [PubMed] [Google Scholar]
  14. LAMY M., FREZAL J., POLONOVSKI J., REY J. [The congenital absence of beta-lipoproteins]. Presse Med. 1961 Jul 8;69:1511–1514. [PubMed] [Google Scholar]
  15. LOCK S. P., DORMANDY K. M. Red-cell fragmentation syndrome: A condition of multiple aetiology? Lancet. 1961 May 13;1(7185):1020–1024. doi: 10.1016/s0140-6736(61)91830-x. [DOI] [PubMed] [Google Scholar]
  16. LOVRIC V. A. Infantile pyknocytosis occurring in dissimilar twins. Med J Aust. 1960 Oct 8;47(2):579–580. doi: 10.5694/j.1326-5377.1960.tb68732.x. [DOI] [PubMed] [Google Scholar]
  17. MIER M., SCHWARTZ S. O., BOSHES B. Acanthrocytosis, pigmentary degeneration of the retina and ataxic neuropathy: a genetically determined syndrome and associated metabolic disorder. Blood. 1960 Nov;16:1586–1608. [PubMed] [Google Scholar]
  18. PHILLIPS G. B. Quantitative chromatographic analysis of plasma and red blood cell lipids in patients with acanthocytosis. J Lab Clin Med. 1962 Mar;59:357–363. [PubMed] [Google Scholar]
  19. SALT H. B., WOLFF O. H., LLOYD J. K., FOSBROOKE A. S., CAMERON A. H., HUBBLE D. V. On having no beta-lipoprotein. A syndrome comprising a-beta-lipoproteinaemia, acanthocytosis, and steatorrhoea. Lancet. 1960 Aug 13;2(7146):325–329. doi: 10.1016/s0140-6736(60)91478-1. [DOI] [PubMed] [Google Scholar]
  20. SCHWARTZ J. F., ROWLAND L. P., EDER H. A., MARKS P. M., OSSERMAN E., ANDERSON H., HIRSCHBERG E. Bassen-Kornweig syndrome. Neuromuscular disorder resembling Friedreich's ataxia associated with retinitis pigmentosa, acanthocytosis, steatorrhea, and an abnormality of lipid metabolism. Trans Am Neurol Assoc. 1961;86:49–53. [PubMed] [Google Scholar]
  21. SCHWARTZ S. O., MOTTO S. A. The diagnostic significance of burr red blood cells. Am J Med Sci. 1949 Nov;218(5):563–566. doi: 10.1097/00000441-194911000-00012. [DOI] [PubMed] [Google Scholar]
  22. SHUMWAY C. N., Jr, MILLER G. An unusual syndrome of hemolytic anemia, thrombocytopenic purpura and renal disease. Blood. 1957 Dec;12(12):1045–1060. [PubMed] [Google Scholar]
  23. SINGER K., FISHER B., PERLSTEIN M. A. Acanthrocytosis; a genetic erythrocytic malformation. Blood. 1952 Jun;7(6):577–591. [PubMed] [Google Scholar]
  24. SOOTHILL J. F. Estimation of eight serum proteins by a gel diffusion precipitin technique. J Lab Clin Med. 1962 May;59:859–870. [PubMed] [Google Scholar]
  25. TUFFY P., BROWN A. K., ZUELZER W. W. Infantile pyknocytosis; a common erythrocyte abnormality of the first trimester. AMA J Dis Child. 1959 Aug;98(2):227–241. [PubMed] [Google Scholar]
  26. WALTON K. W., SCOTT P. J. ESTIMATION OF THE LOW-DENSITY (BETA) LIPOPROTEINS OF SERUM IN HEALTH AND DISEASE USING LARGE MOLECULAR WEIGHT DEXTRAN SULPHATE. J Clin Pathol. 1964 Nov;17:627–643. doi: 10.1136/jcp.17.6.627. [DOI] [PMC free article] [PubMed] [Google Scholar]
  27. WAYS P., REED C. F., HANAHAN D. J. RED-CELL AND PLASMA LIPIDS IN ACANTHOCYTOSIS. J Clin Invest. 1963 Aug;42:1248–1260. doi: 10.1172/JCI104810. [DOI] [PMC free article] [PubMed] [Google Scholar]

Articles from Archives of Disease in Childhood are provided here courtesy of BMJ Publishing Group

RESOURCES