Ichihashi K, Yano S, Kobayashi S, Miyao M, Yanagisawa M
Department of Pediatrics, Jichi Medical School, Tochigi, Japan.
Neuroradiology. 1990;32(1):56-9. doi: 10.1007/BF00593944.
The patient developed myoclonic seizures at 3 months of age and his hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis of Menkes disease. The characteristic signs on the images were: high echo level regions in the cerebrum as detected by brain ultrasonography, low density areas of white matter detected by CT scan, and low signal intensities of white matter by both T1 and balanced MR images.
该患者在3个月大时出现肌阵挛性癫痫发作，其头发呈现扭曲发模式。血清铜含量和铜蓝蛋白水平低证实了门克斯病的诊断。影像学上的特征性表现为：脑超声检查发现大脑高回声区，CT扫描发现白质低密度区，T1加权像和平衡式磁共振图像均显示白质低信号强度。
