Chorea-acanthocytosis: A Mimicker of Huntington Disease Case Report and Review of the Literature

BACKGROUND: Neuroacanthocytosis consists of a group of rare heterogeneous neurodegenerative disorders associated with acanthocytosis. Chorea-acanthocytosis, a variety of neuroacanthocytosis, is an autosomal recessive condition with clinical and radiologic features similar to Huntington disease. Although difficult, distinguishing between these entities is crucial as the implications for genetic counseling are significant. REVIEW SUMMARY: We report the case of a 33-year-old female who presented to our institution with a 3-year history of chorea. The patient's prominent orofacial symptoms and the presence of acanthocytes on peripheral blood smear led to the correct diagnosis of chorea-acanthocytosis. CONCLUSIONS: The significant similarities between chorea-acanthocytosis and Huntington disease at the clinical and radiologic levels can lead to an initial misdiagnosis. Clinical clues suggestive of chorea-acanthocytosis include prominent orofacial dyskinesias, often causing dysarthria and dysphagia. Acanthocytosis, when present on peripheral blood smear, can confirm the diagnosis.