Abstract

Neuroacanthocytosis syndromes can be summarized as a group of diseases characterized by the presence of acanthocytic leukocytes in peripheral blood and neurological abnormalities. The main neuroacanthocytosis syndromes are abetalipoproteinemia, chorea-acanthocytosis and McLeod syndrome. Chorea-acanthocytosis is a rare neurodegenerative disorder usually inherited as an autosomal recessive trait. The disorder is characterized by progressive movement disorders (particularly chorea), cognitive decline, seizures and acanthocytosis. In this article we present two cases diagnosed with chorea-acanthocytosis together with information from literature.