A - p - LIPOPROTEINAEMIA ( BASSEN - KORNZWEIG SYNDROME ) REPORT OF A CASE

In 1950 Bassen and Kornzweig described a new syndrome when they reported the presence of irregular erythrocytes in an 18-year-old Jewish girl who had retinitis pigmentosa and a neurological disorder similar to Friedreich's ataxia. Several years later they described the same triad (abnormal erythrocytes, retinitis pigmentosa, and neuropathy) in the patient's brother (Kornzweig and Bassen, 1957). The parents of these sibs were first cousins. In 1952 Singer, Fisher, and Perlstein described a similar case and suggested the term acanthrocytosis for the irregular red cells (Akantha = thorn). This patient had irregular red cells and neuropathy. Retinopathy, though not present at 13l years, had developed by 19 years (Jampel and Falls, 1958). Druez (1959) later reported a case from Belgium and suggested that the correct term was acanthocytosis. Druez's patient had hypocholesterolaemia, a feature that had been noted in one of the previously reported cases (Jampel and Falls, 1958). In 1960, Salt, Wolff, Lloyd, Fosbrooke, Cameron, and Hubble described a child suffering from acanthocytosis and demonstrated virtual absence of serum low-density lipoproteins (i.e. 3-lipoproteins). This finding has been confirmed in other patients with this syndrome. Twelve cases with this condition have now been reported. Steatorrhoea, hypocholesterolaemia, reduction of total serum lipids and serum phospholipids are now known to be features of the syndrome. Acanthocytosis and a-3-lipoproteinaemia occur in all cases, but neuropathy and retinopathy have not been present in all. 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.