Berardelli A, Thompson P D, Zaccagnini M, Giardini O, D'Eufemia P, Massoud R, Manfredi M
Department of Neurological Sciences, University of Rome La Sapienza, Italy.
Mov Disord. 1991;6(2):163-5. doi: 10.1002/mds.870060213.
Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.
本文报告了两名患有进行性肌张力障碍综合征和同型胱氨酸尿症的姐妹。生化缺陷并未伴有同型胱氨酸尿症的典型临床特征。磁共振成像（MRI）显示双侧基底神经节病变。在与基底神经节病变相关的症状性或继发性肌张力障碍的病因中，应考虑同型胱氨酸尿症。
