Neuroacanthocytosis: A Rare Case Report

Abstract

Neuroacanthocytosis (NA) is a diverse group of disorders in which nervous system abnormalities co-occur with red blood cell abnormalities (acanthocytes). We report the case of a 30-year old male who presented with eight months’ history of progressive involuntary movements, dysphagia, difficulty in walking, and slurred speech. On examination there were multiple bite marks over lips and cheeks (features suggestive of self-mutilation) with dysarthria and nasality of voice along with hypotonia and areflexia.  There was presence of involuntary movements suggestive of chorea, facial and vocal tics. He had normal power in all the four limbs and the plantar reflex was flexor bilaterally. On investigations his peripheral blood smear showed presence of acanthocytes. Hence a diagnosis of neuroacanthocytosis was made.