Kato M, Ishii R, Honma A, Ikeda H, Hayasaka K
Department of Pediatrics, Yamagata University School of Medicine, Iida-nishi, Japan.
Pediatr Neurol. 1998 Aug;19(2):145-7. doi: 10.1016/s0887-8994(98)00025-3.
Aicardi-Goutières syndrome is characterized by the calcification of basal ganglia, leukodystrophy, and lymphocytosis in cerebrospinal fluid. No brainstem lesion has been described. We report a Japanese girl who presented with delayed development and microcephalus at early infancy. Magnetic resonance imaging revealed T2-weighted high intensity in the cerebral white matter and brainstem, and nerve conduction velocity was delayed in the central nervous system, indicating that she manifested dysmyelination in the brainstem white matter similar to that in the cerebral white matter.
艾卡迪-古铁雷斯综合征的特征是基底神经节钙化、脑白质营养不良以及脑脊液淋巴细胞增多。此前尚无脑干病变的相关描述。我们报告了一名日本女孩，她在婴儿早期出现发育迟缓及小头畸形。磁共振成像显示大脑白质和脑干在T2加权像上呈高信号，并且中枢神经系统的神经传导速度延迟，这表明她脑干白质出现了与大脑白质类似的髓鞘形成异常。
