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

Abstract

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.