Bassen-Kornzweig syndrome. Present status.

A reprint of the original paper 'Malformation of Erythrocytes in a Case of Atypical Retinitis Pigmentosa' (Bassen and Kornzweig, 1950) was sent to Professor Arnold Sorsby in 1951. It came too late to be included in his latest book, Genetics in Ophthalmology. There was just room for a single reference to the title in his selective bibliography (Sorsby, 1951). Since that time, 19 years later, 19 cases have been reported and the literature on the subject has expanded voluminously. It has become a well-documented clinical entity with implications for general medicine that vastly overshadow its relative infrequency of occurrence. The clinical picture that emerges from the reported cases has the following characteristics. A child is born at full term, usually of consanguineous parents or grandparents. Several months after birth it begins to develop steatorrhoea and does not gain weight. Coeliac disease is suspected and the child is put on a low fat diet. If a blood work-up is done it will be noted that a large number of red blood cells are peculiar in that they show a crenated appearance; many are small and deeply stained, others resemble beetles, crabs, or turtles, or are star shaped. These are the acanthocytes first described by Bassen and Kornzweig (1950). It is the earliest diagnostic sign and the most constant (Fig. 1). The term acanthrocytes was first used by Singer, Fisher, and Perlstein (1952). It was later modified by Druez (1959), who dropped the letter 'r' and made the term acanthocytes (GreekAkantha-Thorn or Spine). A low sedimentation rate and absence of rouleaux formation are also noted. The blood cholesterol is very low. This significant finding was first reported by Jampel and Falls (1958), as 37 mg./100 ml., the lowest ever reported at their institution. They were the first to suggest that the syndrome might be an inborn error of fat metabolism producing a harmful effect on erythrocytes and nerve cells. This very important finding