Red-Cell and Plasma Lipids in Acanthocytosis*

A- -lipoproteinaemia (Bassen-Kornzweig Syndrome): Report of a Case

“…In three patients the half life of the erythrocytes has been shown to be shortened by the radioactive chromium method (Druez, 1959;Mier et al, 1960;Ways et al, 1963). The anaemia in our patient appeared to respond to intramuscular iron and folic acid and presumably was nutritional in origin.…”

“…They found subnormal 3-lipoprotein levels in both parents and the paternal grandfather of their patient. However, in the family of the patient we are describing and in several other families reported serum 5-lipoprotein levels have been normal (Wolff and Bauman, 1961;Lamy et al, 1963;Ways et al, 1963;Schwartz et al, 1963). These investigations do not confirm the presence of biochemical abnormality in the presumed heterozygous state, but the familial occurrence (Kornzweig and Bassen, 1957) and frequency of parental consanguinity remain as evidence for the disease being due to an autosomal recessive gene.…”

“…Retinal changes have been observed in 6 of the 12 previously reported cases (Bassen and Kornzweig, 1950;Jampel and Falls, 1958;Kornzweig and Bassen, 1957;Druez, 1959;Friedman, Cohn, Zymaris, and Goldner, 1960;Mier, Schwartz, and Boshes, 1960) and electroretinography has been abnormal in one case in which the retinoscopy was normal (Lamy et al, 1961). The 5 patients without retinopathy were all under the age of 14 years at the time of reporting (Salt et al, 1960;Mabry et al, 1960;Wolff and Bauman, 1961;Schwartz et al, 1963;Ways et al, 1963). The patient reported on by Singer et al had no retinopathy at the age of 13 years, but at the age of 19 marked atypical retinitis pigmentosa was present (Jampel and Falls, 1958).…”

“…Where biopsy of the small intestinal mucosa has been carried out the histological appearance has always been the same. The columnar cells covering the villi have unusually clear cytoplasm (Salt et al, 1960;Mabry, Di George, and Auerbach, 1960;Lamy, Frezal, Polonovski, and Rey, 1961;Schwartz, Rowland, Eder, Marks, Osserman, Hirschberg, and Anderson, 1963;Ways, Reed, and Hanahan, 1963). The patient to be described was diagnosed at the age of 10 months and showed some unusual features that led to his early death.…”

Primary disorders of lipoprotein metabolism in childhoodAn abridged version of a lecture given at the Institute of Child Health, 27 November 1966.

“…The cells have a slightly shortened survival time but a haemolytic anaemia is uncommon. The phospholipid composition of the red cell membrane is abnormal, with an increase in the ratio of sphingomyelin to lecithin (Ways, Reed & Hanahan, 1963). Acanthocytes themselves are not pathognomonic of abetalipoproteinaemia and may occur in hepatic disease (Smith, Longergen & Sterling, 1964) and in patients with deficiency (as distinct from absence) of /3-lipoprotein (Kuo & Bassett, 1962).…”