NEUROACANTHOCYTOSIS AND APREBETALIPOPROTEINEMIA

A 30-year-old woman presented with a progressive neurologic disorder c haracterized by seizures, buccolingual dyskinesias, orofacial ties, ch oreiform movements, atrophy, and areflexia. Investigations revealed no rmal lipid profile except for aprebetalipoproteinemia. Phase-contrast and electron microscopy showed 35 to 40% acanthocytes. MRI and (18)flu orodeoxyglucose-PET studies showed caudate atrophy and hypometabolism. The phenotype of this patient is neuroacanthocytosis and its associat ion with aprebetalipoproteinemia may represent a new subentity of the disorder.