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Chorea-acanthocytosis is a rare disease presenting with chorea, dystonia, tics, amyotrophy, areflexia, dementia and oro-lingual self-mutilation. The presence of acanthocytes in blood smear and elevated creatin kinase levels are the most common laboratory findings. However, there are instances of late-appearing acanthocytes or of choreaacanthocytosis without acanthocytes. We report a 52-year-old patient with a 12-year history of chorea and orofacial dyskinesia. On neurological examination, he had facial, perioral and lingual hyperkinesias as well as dystonic trunk movements with severe limb chorea. Magnetic resonance imaging of the brain showed bilateral atrophy of the caudate nuclei. Peripheral blood smear, which failed to show any abnormality on all repeated evaluations, revealed abundant acanthocytes. Based on this, the patient was diagnosed with choreaacanthocytosis with late appearance of acantocytes in the course of the disease. In this paper, we underlined the significance of examination for acanthocytosis with special techniques to increase the diagnostic yield. |
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