Bassen-kornzweig syndrome (abetalipoproteinemia; acanthocytosis; familial hypolipoproteinemia)    126

General: Inability to absorb and transport lipids; predominant in males; autosomal recessive inheritance; acanthocytosis, a peculiar burr cell malformation of the red blood cells; the basic defect is thought to be an inability to synthesize the apolipoprotein B peptide of low-density and very-low-density lipoproteins.

Ocular: Ptosis (may be present); nystagmus; progressive external ophthalmoplegia; retinitis pigmentosa (usually atypical); retinopathy develops with age after 10 to 14 years; optic atrophy occasionally; epicanthal folds; cataract; optic nerve pallor; hypopigmentation of retina; macular degeneration; dyschromatopsia.

Clinical: Steatorrhea; hypocholesterolemia; neurologic disorder with ataxia (similar to Friedreich ataxia); areflexia; Babinski sign; muscle weakness (facial, lingual; proximal and distal); slurred speech; lordosis; kyphosis.

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