Neuroacanthocytosis is a heterogeneous group of disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. We report a case of neuroacanthocytosis with typical phenotype of choreoacanthocytosis. A 40 year male presented with features of chorea with orofaciolingual dystonia producing eating and speech difficulties. There were features of self mutilation in form of lip and tongue biting. Peripheral blood smear examination revealed acanthocytes in our patient. Neuroimaging showed bilateral caudate atrophy and nerve conduction study showed motor axonal neuropathy. This case report describes the typical features and investigations to diagnose this rare disorder which is usually underdiagnosed.
© Journal of the Association of Physicians of India 2011.