Tada Hiroko, Takanashi Jun-ichi
Department of Pediatrics, Chibaken Saiseikai Narashino Hospital, Narashino, Japan.
Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan; Department of Radiology, Toho University Sakura Medical Center, Sakura, Japan.
Brain Dev. 2014 Jan;36(1):57-60. doi: 10.1016/j.braindev.2012.12.003. Epub 2013 Jan 17.
We reported a 5-year-old boy with 18q(-) syndrome who showed typical magnetic resonance imaging (MRI) findings of high signal intensity on T2-weighted imaging, and a slightly high but lower than normal signal on T1-weighted imaging of the white matter. MR spectroscopy (MRS) revealed increased concentrations of creatine, myoinositol and choline with a normal N-acetylaspartate one. The cerebral white matter lesions observed on MRI in patients with 18q(-) syndrome have been considered to reflect hypomyelination due to a decrease in myelin basic protein so far, however, MRS suggested reactive astrocytic gliosis and accelerated myelin turnover, which are compatible with recent pathological reports of 18q(-) syndrome.
我们报告了一名患有18q(-)综合征的5岁男孩，其磁共振成像（MRI）表现为典型的T2加权成像高信号强度，白质在T1加权成像上信号略高但低于正常。磁共振波谱（MRS）显示肌酸、肌醇和胆碱浓度升高，N-乙酰天门冬氨酸浓度正常。迄今为止，18q(-)综合征患者MRI上观察到的脑白质病变被认为反映了由于髓鞘碱性蛋白减少导致的髓鞘形成不良，然而，MRS提示反应性星形细胞胶质增生和髓鞘更新加速，这与最近关于18q(-)综合征的病理报告相符。
