Fujiwara Takuya, Watanabe Yoshiyuki, Tanaka Hisashi, Takahashi Hiroto, Nabatame Shin, Yi Wang, Tomiyama Noriyuki
Diagnostic and Interventional Radiology, Osaka University Graduate School of Medicine, Suita, Japan.
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
BJR Case Rep. 2019 Feb 21;5(2):20180078. doi: 10.1259/bjrcr.20180078. eCollection 2019 Jun.
We present the first case of twins with infantile neuroaxonal dystrophy evaluating brain iron deposition using quantitative susceptibility mapping (QSM). A 6-year-old boy who was normal at birth had psychomotor regression and hypotonia from 2-years-old. Brain MRI showed low intensity areas in globus pallidus (GP) and substantia nigra (SN) on * weighted imaging. QSM values of GP and SN were 0.19 and 0.29 ppm, respectively. His twin brother showed almost the same imaging findings. Follow-up MRI revealed increase of QSM value in GP and SN.
我们展示了首例使用定量磁化率映射（QSM）评估脑铁沉积的患婴儿型神经轴索性营养不良的双胞胎病例。一名出生时正常的6岁男孩从2岁起出现精神运动发育迟缓及肌张力减退。脑部磁共振成像（MRI）在T1加权成像上显示苍白球（GP）和黑质（SN）有低强度区域。GP和SN的QSM值分别为0.19 ppm和0.29 ppm。他的双胞胎兄弟显示出几乎相同的影像学表现。随访MRI显示GP和SN的QSM值增加。
