Neuroacanthocytosis masquerading as Huntington's disease: CT/MRI findings

Abstract

Neuroacanthocytosis (NA) is a rare, degenerative, presumably autosomal-recessive disorder of the nervous system presenting in adulthood and is associated with acanthocytosis of the peripheral blood. The clinical spectrum of NA shares similarities with Huntington's disease (HD), including dyskinetic choreiform movements and degeneration of the caudate nucleus. A woman presented with choreiform movements and was given a presumed diagnosis of HD. Neuroimaging studies were consistent with HD. She lacked the genetic marker for HD, and further evaluation revealed acanthocytosis of the peripheral blood. The case illustrates the similarities and differences in the clinical presentations and neuroimaging studies of these two disease entities, emphasizing the need for a careful clinical evaluation.