Brownsworth R D, Bodensteiner J B, Schaefer G B, Barnes P
Department of Neurology, University of Oklahoma Health Sciences Center, Oklahoma City.
Pediatr Neurol. 1985 Jul-Aug;1(4):242-4. doi: 10.1016/s0887-8994(85)80009-6.
A five-year-old white male presented with a history of progressive loss of vision that was subsequently followed by progressive corticospinal dysfunction. Evaluation revealed the presence of leukodystrophy which was confirmed by a deficiency of the enzyme, galactosylceramide beta-galactosidase. We present the clinical, computed tomographic, and magnetic resonance imaging features of this late-onset form of globoid cell leukodystrophy.
一名5岁白人男性,有视力进行性丧失病史,随后出现进行性皮质脊髓功能障碍。评估显示存在脑白质营养不良,这通过半乳糖基神经酰胺β-半乳糖苷酶缺乏得以证实。我们展示了这种晚发型球状细胞脑白质营养不良的临床、计算机断层扫描和磁共振成像特征。