Miranda M, Campero M, Tenhamm E, Villagra R
Depto Ciencias Neurológicas, Facultad de Medicina, Universidad de Chile (Campus Oriente), Hospital del Salvador, Santiago de Chile.
Rev Med Chil. 1993 Feb;121(2):176-9.
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.
神经棘红细胞增多症是一种综合征,其特征为锥体外系神经表现,如舞蹈症、肌张力障碍、帕金森症或抽搐,以及血涂片中有棘红细胞增多。它常伴有自我攻击行为(咬嘴唇和舌头)和肢体反射性肌萎缩。本文介绍了3例具有该综合征特征性神经表现、血涂片中有棘红细胞增多且血浆脂蛋白正常的成年患者。所有患者的凯尔抗原均为阴性。2例患者表现为 Gilles de la Tourette 综合征,1例表现为家族性舞蹈症。对于有锥体外系表现且血涂片显示有棘红细胞增多的成年患者,必须怀疑该诊断。这是智利关于神经棘红细胞增多症的首例报告,也是西班牙裔患者群体中的第二例报告。