鸟氨酸氨甲酰基转移酶缺陷症头颅影像学及脑功能监测:1例报告

罗芳, 陈正, 马晓路, 吴秀静, 施丽萍, 杜立中

中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (2) : 165-167.

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中国当代儿科杂志 ›› 2011, Vol. 13 ›› Issue (2) : 165-167.
病例报告

鸟氨酸氨甲酰基转移酶缺陷症头颅影像学及脑功能监测:1例报告

  • 罗芳,陈正,马晓路,吴秀静,施丽萍,杜立中
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Cerebral imaging and brain function monitoring in a neonate with ornithine transcarbamylase deficiency

  • LUO Fang, CHEN Zheng, MA Xiao-Lu, WU Xiu-Jing, SHI Li-Ping, DU Li-Zhong
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罗芳, 陈正, 马晓路, 吴秀静, 施丽萍, 杜立中. 鸟氨酸氨甲酰基转移酶缺陷症头颅影像学及脑功能监测:1例报告[J]. 中国当代儿科杂志. 2011, 13(2): 165-167
LUO Fang, CHEN Zheng, MA Xiao-Lu, WU Xiu-Jing, SHI Li-Ping, DU Li-Zhong. Cerebral imaging and brain function monitoring in a neonate with ornithine transcarbamylase deficiency[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(2): 165-167
中图分类号: R589   

参考文献

[1]Scriver CR, Beaudet AL, Sly WS, Valle D. The metabolic and molecular bases of inherited disease[M]. 8th ed. New York: Mc Graw Hill, 2001: 1909-1963. [2]Nagata N, Matsuda I, Matsuura T, Oyanagi K, Tada K, Narisawa K, et al. Retrospective survey of urea cycle disorders: Part 2.Neurological outcome in forty-nine Japanese patients with urea cycle enzymopathies[J]. Am J Med Genet, 1991, 15, 40(4): 477-481. [3]宋元宗,郝虎,柳国胜,肖昕,王自能. 鸟氨酸氨甲酰基转移酶缺陷症尿液标志物的气相色谱-质谱法分析[J]. 基础医学与临床,2007,27(7):811-814. [4]Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, et al. Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders[J]. AJNR Am J Neuroradiol, 2003, 24(6): 1184-1187. [5]Bindu PS, Sinha S, Taly AB, Christopher R, Kovoor JM .Cranial MRI in acute hyperammonemic encephalopathy[J]. Pediatr Neurol, 2009, 41(2): 139-142. [6]Dolman CL, Clasen RA, DoroviniZis K. Severe cerebral damage in ornithine transcarbamylase deficiency[J]. Clin Neuropathol, 1988, 7(1): 10-15. [7]Brunquell P, Tezcan K, DiMario FJ Jr. Electroencephalographic findings in ornithine transcarbamylase deficiency[J]. J Child Neurol, 1999, 14(8): 533-536. [8]Bogdanovic MD, Kidd D, Briddon A, Duncan JS, Land JM. Late onset heterozygous ornithine transcarbamylase deficiency mimicking complex partial status epilepticus[J]. J Neurol Neurosurg Psychiatry, 2000, 69(6): 813-815. [9]施亿赟,程国强,邵肖梅,庄德义,刘登礼,刘先知,等. 正常足月新生儿振幅整合脑电图特点的多中心研究[J].中国循证儿科医学杂志,2009,5(6): 514-519. [10]Victor S, Appleton RE, Beirne M, Marson AG, Weindling AM. Spectral analysis of eletroencephalography  in newborn infants: normal ranges[J]. Pediatr Res, 2005, 57(3): 336-341. [11]Gimeno V. Obtaining the EEG envelope in real time: a practical method based on homomorphic filtering[J]. Neuropsychobiogy, 1987, 18(2): 110-112. [12]汪吉梅,刘登礼,邵肖梅. 亚低温对新生猪缺氧缺血脑损伤振幅整合脑电图变化的影响[J]. 中国当代儿科杂志,2005,7(2):159-162. [13]汪吉梅. 振幅整合脑电图在新生儿脑损伤中的应用[J]. 中国当代儿科杂志,2005,7(2):176-178.

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