[Neuroacanthocytosis: report of 3 cases].
Neuroacanthocytosis is a syndrome characterized by extrapyramidal neurologic manifestations such as chorea, dystonia, parkinsonism or tics and acanthocytosis in the blood smear. It is often associated with self aggression (lips and tongue bites) and arreflectic amyotrophy of the extremities. Three adult patients with the characteristic neurologic manifestations of the syndrome, acanthocytosis in the blood smear and normal plasma lipoproteins are presented. Kell antigen was negative in all the patients. Two patients presented as a Gilles de la Tourette syndrome and one as a familiar Chorea. The diagnosis must be suspected in adult patients with extrapyramidal manifestations and in whom the blood smear shows the presence of acanthocytosis. This is the first report of neuroacathocytosis in Chile and the second in a group of patients of hispanic origin.
Miranda
M
M
Depto Ciencias Neurológicas, Facultad de Medicina, Universidad de Chile (Campus Oriente), Hospital del Salvador, Santiago de Chile.
Campero
M
M
Tenhamm
E
E
Villagra
R
R
D000328:Adult; D003937:Diagnosis, Differential; D005116:Extrapyramidal Tracts / Q000473:pathology; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis*; D008297:Male; D008875:Middle Aged; D005879:Tourette Syndrome / Q000175:diagnosis*
Neuroacantocitosis: comunicación de 3 casos.