Chorea with acanthocytosis: are we under diagnosing neuroacanthocytosis?

Neuroacanthocytosis is a genetically heterogenous disorder characterized by neurological abnormalities which can manifest later in life. More than 5% acanthocytes in a peripheral blood film is supportive of neuroacanthocytosis. Here we report two female patients aged 48 and 33 years who presented with chorea and the possibility of neuroacanthocytosis was not considered initially leading to considerable delay in diagnosis. Since the time of appearance of acanthocytosis among patients vary in the course of the disease, it is necessary to have regular follow up with repeated blood film examination to recognize neuroacanthocytosis in otherwise undiagnosed patients.

DOI: http://dx.doi.org/10.4038/jccp.v42i1-2.4556

Journal of the Ceylon College of Physicians, 2011, 42, 41-42