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肾上腺脑白质营养不良1例及文献复习 被引量：1

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摘要 患儿,男,12岁。因行为异常伴记忆力下降8~＋月,右上肢僵硬、走路不稳1~＋月于我院就诊。就诊前8~＋月患儿无明显诱因逐渐出现记忆力下降、反应迟钝、流涎、不自主眨眼,无视物模糊、头昏、头痛、耳鸣、听力下降、行走不稳。就诊前1~＋月,患儿逐渐出现右上肢僵硬,行走不稳,无法写字,伴视力减退,无头晕、头痛、恶心、呕吐、吞咽困难、饮水呛咳、听力下降,无二便障碍。患儿既往体健,父母体健,非近亲婚配,无特殊家族史,否认近期有中毒史及特殊药物接触史。
作者 陈静 王韦 陈蕾
机构地区 四川大学华西医院神经内科
出处 《疑难病杂志》 CAS 2014年第10期1079-1081,共3页 Chinese Journal of Difficult and Complicated Cases
关键词 肾上腺脑白质营养不良 Babinskin征 儿童
分类号 R741 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献10

  • 1兰风华,黄梁浒,杨渤生.肾上腺脑白质营养不良的分子诊断与分子机制[J].东南国防医药,2005,7(5):321-323. 被引量：9
  • 2Moser HW,Loes DJ,Melhem EK,et al.X-Linked adrenoleukodystrophy:overview and prognosis as a function of age and brain magnetic resonance imaging abnormality,a study involving 372 patients[J].Neuropediatrics,2000,31(5):227-239.
  • 3Moser AB,Kreiter N,Bezman L,et al.Plasma very long chain fatty acids in 3000 peroxisome disease patients and 29,000 controls[J].Ann Neurol,1999,45(1):100-110.
  • 4Jack GH,Malm-Willadsen K,Frederiksen A,et al.Clinical manifest xlinked recessive adrenoleukodystrophy in a female[J].Case Rep Neurol Med,2013:491790.
  • 5Berger J,Gaertner J.X-linked adrenoleukodystrophy:clinical,biochemical and pathogenetic aspects[J],Biochim Biophys Acta,2006,1763(12):1721-1732.
  • 6Eichler F,Aubourg P.Therapeutics of X-linked adrenoleukodystrophy[J].Drag Discov Today,2008,5(4):237-242.
  • 7Kemp S,Theodoulou FL,Wanders RJ.Mammalian peroxisomal ABC transporters:from endogenous substrates to pathology and clinical significance[J].Br J Pharmacol,2011,164(7,SI):1753-1766.
  • 8Hung KL,Wang JS,Keng WT,et al.Mutational analyses on X-Linked adrenoleukodystrophy reveal a novel cryptic splicing and three missense mutations in the ABCD1 gene[J].Pediatr Neuro!,2013,49(3):185-190.
  • 9平莉莉,包新华,王爱花,潘虹,吴晔,熊晖,姜玉武,秦炯,吴希如.X连锁肾上腺脑白质营养不良89例临床特征及基因型/表型关系[J].中华儿科杂志,2007,45(3):203-207. 被引量：21
  • 10Maestri NE,Beaty TH.Predictions of a 2-locus model for disease heterogeneity:application to adrenoleukodystrophy[J].Am J Med Genet,1992,44(5):576-582.

二级参考文献17

  • 1黄梁浒,曾健,杨渤生,黄惠娟,吴玉水,兰风华.3个肾上腺脑白质营养不良家系的基因突变分析[J].中华医学遗传学杂志,2004,21(3):193-197. 被引量：14
  • 2黄梁浒,郑德柱,曾健,辛娜,兰风华.肾上腺脑白质营养不良分子诊断中假基因干扰的排除[J].生物化学与生物物理进展,2004,31(6):572-575. 被引量：7
  • 3Moser HW, Smith KD, Watkins PA, et al. X-linked adrenoleukodystrophy//Scriver CR, Beaudet AL, Sly WS, et al.The metabolic and molecular bases of inherited disease. 8th ed.New York: McGraw-Hill, 2001: 3257-3301.
  • 4Pan H, Xiong H, Wu Y, et aL ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. Pediatr Neurol,2005,33 : 114-120.
  • 5Moser HW. Disorders of very long chain fatty acids // Behrman RE, Kliegman RM, Jenson HB. Nelson textbook of ppediatrics.16th ed. Harcourt: Saunders,2001:384-387.
  • 6Yasuyuki S, Yasuhiko T,Nobuyuki S, et aL Natural history of X-linked adrenoleukedystrophy in Japan. Brain Dev, 2005,27:353-357.
  • 7Kok F, Neumann S, Sarde CO, et al. Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutat, 1995, 6: 104-115.
  • 8Laureti S, Casucci G, Santeusanio F, et al. X-linked adrenoleukodystrophy is a frequent cause of idiopathic Addison's disease in young adult male patients. J Clin Endocrinol Metab,1996, 81:470-474.
  • 9Miner HW,Loes DJ, Melhem ER, et al. X-linked adrenoleukodystrophy:overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients. Neuropediatrics, 2000, 31:227-239.
  • 10Barkovich A J, Ferriero DM, Bass N, et al.Involvement of the pontomedullary corticospinal tracts: a useful finding in the diagnosis of X-linked adrenolenkodystrophy. AJNR Am J Neuroradiol , 1997, 18: 95-100.

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疑难病杂志
2014年 第10期

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