Van Kirk M P, Larsen P D, O'Connor P S
J Clin Neuroophthalmol. 1986 Jun;6(2):86-90.
The case of an 11-year-old female with the clinical findings of Hallervorden-Spatz syndrome, including progressive dystonia, dysarthria, disturbances of gait, and retinal pigmentary degeneration, is presented. The differential diagnosis of childhood dystonia and retinal pigmentary degeneration associated with neurological conditions is discussed. The presence of basal ganglia densities on computed tomography scanning in this patient may aid in future premortem diagnosis of this rare disease.
本文报告了一例11岁女性患者，具有Hallervorden-Spatz综合征的临床表现，包括进行性肌张力障碍、构音障碍、步态障碍和视网膜色素变性。文中讨论了儿童肌张力障碍和与神经系统疾病相关的视网膜色素变性的鉴别诊断。该患者计算机断层扫描显示基底节区密度异常，这可能有助于未来对这种罕见疾病进行生前诊断。
