Choreoacanthocytosis in a Sri Lankan family presenting with 70% of acanthocytes in a peripheral blood film

Abstract

Introduction: Chreoacanthocytois,a rare autosomal recessive neurodegenerative disease with an estimate of affected 1000cases worldwide, caused by mutations in the VPS13A gene which encodes chorein protein.1 The function of chorein at molecular level is poorly understood.2 Its characterized by chorea with flinging arms, legs and lurching gait, dystonia affecting mouth and pharynx with characteristic feeding dystonia, self mutilation, frontal lobe dysfunction, and seizures. Acanthocytes constitute for about 5%-50%RBC in such patients.