Bassen-Kornzweig syndrome

Abstract

The Bassen-Kornzweig syndrome is a rare hereditary disease in which the synthesis of betalipoproteins in the liver is disturbed. It is further characterized by abnormalities of plasma lipid composition, abnormal morphology of red blood cells, morphologic changes in the intestinal villi with impairment of fat absorption, atypical retinitis pigmentosa and central nervous system involvement. Two additional patients with Bassen-Kornzweig syndrome, abetalipoproteinemia, acanthocytosis, cerebellar signs and atypical retinitis pigmentosa are described. Both were born from consanguinious marriages. The presence of steatorrhea, a relatively mild retinal involvement and degenerative changes in the striated muscles with accumulation of ceroid pigment led to the diagnosis thymus the first patient. The second case was of particular interest for several reasons: (1) the finding of two cases of asymptomatic acanthocytosis among family members; (2) the products of her two pregnancies, one of which was a microcephalic infant with anophtalmos while the second was a healthy infant with no signs of Bassen-Kornzweig syndrome; (3) the presence of a severe retinitis pigmentosa with macular degeneration; (4) the development of a bilateral keratoconus; and (5) the development of a transitory bilateral papilledema during puzzling circumstances.