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低血糖腦病      海洛因腦病  顱腦 MRI 平掃＋DWI＋增強(qiáng)掃描：雙側(cè)小腦中腳見對(duì)稱性斑片狀長 T1、長 T2、FLAIR 高信號(hào)影改變（A～C），DWI 序列呈高信號(hào)影，增強(qiáng)掃描未見異常強(qiáng)化（D、E）。顱腦磁共振血管成像未見明顯異常（F）。內(nèi)囊后肢呈「八字征」，條狀的長 T1、長 T2、FLAIR 高信號(hào)影（G～I(xiàn)）；DWI呈明顯高信號(hào)影，增強(qiáng)后無強(qiáng)化（J、K）    Charcot-Marie-Tooth 病 1 型  ClC-2 氯離子通道缺乏導(dǎo)致的腦白質(zhì)水腫 Krabble 病 腎上腺脊髓神經(jīng)病 肌萎縮側(cè)索硬化（ALS）[8] 腦腱黃瘤病
CSF1R-related leukoencephalopathy 伴有球形神經(jīng)軸索的遺傳性彌漫白質(zhì)腦?。℉DLS） NMOSD ｍ.10158Ｔ>Ｃ致線粒體腦肌病伴高乳酸血癥和卒中樣發(fā)作疊加 Leigh 綜合征一例 POLR3-related disorders：4 H 綜合征（髓鞘缺失、缺齒、低促性腺素性功能減退癥） 編輯 | 王弘 投稿 | wanghong@dxy.cn 參考文獻(xiàn) 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,孫麗紅,張?jiān)? 等.磁共振成像表現(xiàn)為雙側(cè)橋臂異常信號(hào)的不同疾病的臨床分析[J].中華神經(jīng)科雜志,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. 毛晨暉, 謝曼青, 劉彩燕, et al. 表現(xiàn)為痙攣性截癱的成人型腦白質(zhì)營養(yǎng)不良[J]. 中華神經(jīng)科雜志, 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. 陳涓涓,陳旭輝,陳淮菁, 等.m.10158T>C致線粒體腦肌病伴高乳酸血癥和卒中樣發(fā)作疊加Leigh綜合征一例臨床、病理及基因特點(diǎn)[J].中華神經(jīng)科雜志,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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