低血糖脑病 海洛因脑病 颅脑 MRI 平扫+DWI+增强扫描:双侧小脑中脚见对称性斑片状长 T1、长 T2、FLAIR 高信号影改变(A~C),DWI 序列呈高信号影,增强扫描未见异常强化(D、E)。颅脑磁共振血管成像未见明显异常(F)。内囊后肢呈「八字征」,条状的长 T1、长 T2、FLAIR 高信号影(G~I);DWI呈明显高信号影,增强后无强化(J、K) Charcot-Marie-Tooth 病 1 型 ClC-2 氯离子通道缺乏导致的脑白质水肿 Krabble 病 肾上腺脊髓神经病 肌萎缩侧索硬化(ALS)[8] 脑腱黄瘤病 CSF1R-related leukoencephalopathy 伴有球形神经轴索的遗传性弥漫白质脑病(HDLS) NMOSD m.10158T>C致线粒体脑肌病伴高乳酸血症和卒中样发作叠加 Leigh 综合征一例 POLR3-related disorders:4 H 综合征(髓鞘缺失、缺齿、低促性腺素性功能减退症) 编辑 | 王弘 投稿 | wanghong@dxy.cn 参考文献 1. Johkura K, Nakae Y, Kudo Y, et al. Early diffusion MR imaging findings and short-term outcome in comatose patients with hypoglycemia[J]. American Journal of Neuroradiology, 2012, 33(5): 904-909. 2. http://www.dxy.cn/bbs/topic/33058500 3. 姜季委,孙丽红,张元超, 等.磁共振成像表现为双侧桥臂异常信号的不同疾病的临床分析[J].中华神经科杂志,2018,51(1):49-54. 4. Yagi S,Matsumoto H,Hashida H. Asymmetric magnetic resonance im[1]aging findings in metronidazole-induced encephalopathy [J]. Intern Med,2018,57(13):1955-1956. 5. Zhao Y, Xie Y, Zhu X, Wang H, Li Y, Li J. Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report. BMC Neurol. 2014;14:156. Published 2014 Aug 3. doi:10.1186/s12883-014-0156-5 6. Depienne C, Bugiani M, Dupuits C, et al. Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study[J]. The Lancet Neurology, 2013, 12(7): 659-668. 7. 毛晨晖, 谢曼青, 刘彩燕, et al. 表现为痉挛性截瘫的成人型脑白质营养不良[J]. 中华神经科杂志, 2015, 48(9):748-752. 8. Jin J,Hu F,Zhang Q,et al. Hyperintensity of the corticospinal tract on FLAIR:A simple and sensitive objective upper motor neuron de[1]generation marker in clinically verified amyotrophic lateral sclerosis [J]. J Neurol Sci,2016,367:177-183. 9. Mutlu D,Tuncer A,Gocmen R,et al. Diagnostic challenge:A case of late-onset spinal form cerebrotendinous anthomatosis[J]. Neurology, 2019,92(9):438-439. 10. Konno T,Kasanuki K,Ikeuchi T,Dickson DW,Wszolek ZK.CSF1R-related leukoencephalopathy: A major player in primary microgliopathies. Neurology 2018 Dec 11;91(24):1092-1104 11. Kim H J, Paul F, Lana-Peixoto M A, et al. MRI characteristics of neuromyelitis optica spectrum disorder: an international update[J]. Neurology, 2015, 84(11): 1165-1173. 12. 陈涓涓,陈旭辉,陈淮菁, 等.m.10158T>C致线粒体脑肌病伴高乳酸血症和卒中样发作叠加Leigh综合征一例临床、病理及基因特点[J].中华神经科杂志,2017,50(6):435-439. 13. La Piana R, Cayami FK, Tran LT, et al. Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology. 2016;86(17):1622–1626. doi:10.1212/WNL.0000000000002612 |
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