Skip to main content
Postgraduate Medical Journal logoLink to Postgraduate Medical Journal
. 1976 Nov;52(613):713–720. doi: 10.1136/pgmj.52.613.713

Abetalipoproteinaemia. A case report with pathological studies.

G M Yuill, C Scholz, R G Lascelles
PMCID: PMC2496333  PMID: 1013003

Abstract

The clinical and pathological features of a case of abetalipoproteinaemia in a 38-year-old patient are described in detail. A feature not previously recorded was a marked reduction in the velocity of ocular horizontal saccadic movements. Pathological studies revealed an active chronic demyelinating process. The patient showed no response to large doses of vitamin E. The rationale for this therapy, and the possible reasons for its failure are discussed.

Full text

PDF
713

Images in this article

Selected References

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

  1. Aminoff M. J. Acanthocytosis and neurological disease. Brain. 1972;95(4):749–760. doi: 10.1093/brain/95.4.749. [DOI] [PubMed] [Google Scholar]
  2. 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]
  3. Cooper R. A., Gulbrandsen C. L. The relationship between serum lipoproteins and red cell membranes in abetalipoproteinemia: deficiency of lecithin:cholesterol acyltransferase. J Lab Clin Med. 1971 Sep;78(3):323–335. [PubMed] [Google Scholar]
  4. Critchley E. M., Clark D. B., Wikler A. Acanthocytosis and neurological disorder without betalipoproteinemia. Arch Neurol. 1968 Feb;18(2):134–140. doi: 10.1001/archneur.1968.00470320036004. [DOI] [PubMed] [Google Scholar]
  5. Dische M. R., Porro R. S. The cardiac lesions in Bassen-Kornzweig syndrome. Report of a case, with autopsy findings. Am J Med. 1970 Oct;49(4):568–571. doi: 10.1016/s0002-9343(70)80053-5. [DOI] [PubMed] [Google Scholar]
  6. ISSELBACHER K. J., SCHEIG R., PLOTKIN G. R., CAULFIELD J. B. CONGENITAL BETA-LIPOPROTEIN DEFICIENCY: AN HEREDITARY DISORDER INVOLVING A DEFECT IN THE ABSORPTION AND TRANSPORT OF LIPIDS. Medicine (Baltimore) 1964 May;43:347–361. [PubMed] [Google Scholar]
  7. Kayden H. J. Abetalipoproteinemia. Annu Rev Med. 1972;23:285–296. doi: 10.1146/annurev.me.23.020172.001441. [DOI] [PubMed] [Google Scholar]
  8. Kayden H. J., Silber R., Kossmann C. E. The role of vitamin E deficiency in the abnormal autohemolysis of acanthocytosis. Trans Assoc Am Physicians. 1965;78:334–342. [PubMed] [Google Scholar]
  9. Lees R. S., Ahrens E. H., Jr Fat transport in abetalipoproteinemia. The effects of repeated infusions of beta-lipoprotein-rich plasma. N Engl J Med. 1969 Jun 5;280(23):1261–1266. doi: 10.1056/NEJM196906052802302. [DOI] [PubMed] [Google Scholar]
  10. Levine I. M., Estes J. W., Looney J. M. Hereditary neurological disease with acanthocytosis. A new syndrome. Arch Neurol. 1968 Oct;19(4):403–409. doi: 10.1001/archneur.1968.00480040069007. [DOI] [PubMed] [Google Scholar]
  11. O'Brien J. S. Cell membranes--composition: structure: function. J Theor Biol. 1967 Jun;15(3):307–324. doi: 10.1016/0022-5193(67)90140-3. [DOI] [PubMed] [Google Scholar]
  12. SOBREVILLA L. A., GOODMAN M. L., KANE C. A. DEMYELINATING CENTRAL NERVOUS SYSTEM DISEASE, MACULAR ATROPHY AND ACANTHOCYTOSIS (BASSEN-KORNZWEIG SYNDROME). Am J Med. 1964 Nov;37:821–828. doi: 10.1016/0002-9343(64)90030-0. [DOI] [PubMed] [Google Scholar]

Articles from Postgraduate Medical Journal are provided here courtesy of BMJ Publishing Group

RESOURCES