Chorea-Acanthocytosis: A Case Report

Abstract

Scientific BACKGROUND: Neuroacanthocytosis consist of a group of rare neurodegenerative disorders associated with acanthocytosis on peripheral blood smear. Chorea-acanthocytosis, a variety of neuroacanthocytosis, is an autosomal recessive condition with clinical and radiologic features similar to Huntington disease.

CASE: Forty-eight year old male patient who had the symptoms of involuntary movements, speech disorders, forgetfulness referred to our institution. Neurological examination revealed dysarthria, orofacial dyskinesias, choreoathetosis on arms and legs. The patient’s orofacial dyskinesias and acanthocytes had seen his peripheral blood smear led to the confirm the diagnosis of chorea-acanthocytosis.

CONCLUSION: Significant clinical and radiologic similitaries between chorea-acantocytosis and Huntington disease may lead to an initial misdiagnosis. Clinical clues suggestive of chorea-acanthocytosis include orofacial dyskinesias and acanthocytosis on peripheral blood smear can confirm the diagnosis.