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基因诊断X-连锁肾上腺脑白质营养不良 被引量：2

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摘要 患儿,男,10岁,＂因走路不稳、头痛40余天＂入院.最初家长发现患儿穿衣时动作笨拙,走路不稳,易摔倒,头痛呈阵发性,顶枕部为著,性质不详,无发热,无抽搐,无尿便障碍.既往史：出生史及生长发育史正常,学习排名中等（家长诉）,患儿姐姐（16岁）、母亲、姥姥均健康,姨妈及其一子一女均健康.入院查体：头围54 cm,血压108/70 mmHg（1 mmHg =0.133 kPa）,一般状态可,神清,爱笑,计算力差,吐字不清,周身皮肤粗糙、无色素沉着,双侧瞳孔等大等圆,对光反射灵敏,水平眼震,咽无充血,心肺腹部查体未见异常,颈项强阴性,四肢肌力正常,肌张力高,双侧膝腱反射亢进,双侧Chaddock sign（＋）,昂白氏征阴性.
作者 庞焕香 郝小生 陈银波 张琰
机构地区 长春市儿童医院儿内科 吉林大学第一医院小儿神经科
出处 《中国小儿急救医学》 CAS 2014年第12期813-814,共2页 Chinese Pediatric Emergency Medicine
关键词 X-连锁肾上腺脑白质营养不良 基因诊断 入院查体 走路不稳 尿便障碍 皮肤粗糙 色素沉着 对光反射
分类号 R748 [医药卫生—神经病学与精神病学]
  • 相关文献

参考文献10

  • 1Bezman L,Moser AB,Raymond GV,et al.Adrenoleukodystrophy:incidence,new mutation rate,and results of extended family screening[J].Ann Neurol,2001,49(4):512-517.
  • 2Engelen M,Barbier M,Dijkstra IM,et al.X-linked adrenoleukodystrophy in women:a cross-sectional cohort study[J].Brain,2014,137(Pt 3):693-706.
  • 3翟娟,王清学,穆亚平.嗜铬细胞瘤伴脑白质病二例[J].小儿急救医学,2003,10(1):60-60. 被引量：1
  • 4Berger J,Forss-Petter S,Eichler FS.Pathophysiology of Xlinked adrenoleukodystrophy[J].Biochimie,2014,98:135-142.
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  • 8Shimozawa N,Honda A,Kajiwara N,et al.X-linked adrenoleukodystrophy:diagnostic and follow-up system in Japan[J].J Hum Genet,2011,56(2):106-109.
  • 9Morita M,Kobayashi J,Yamazaki K,et al.A novel double mutation in the ABCD1 gene in a patient with X-linked adrenoleukodystrophy:analysis of the stability and function of the mutant ABCD1 protein[J].JIMD Rep,2013,10:95-102.
  • 10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

二级参考文献13

  • 1高林蓉,张明,唐新宇,高瑞敏.肾上腺脑白质营养不良CT及MRI表现(附一例报告)[J].影像诊断与介入放射学,1992,1(2). 被引量：1
  • 2Moser 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.
  • 3Pan H, Xiong H, Wu Y, et aL ABCD1 gene mutations in Chinese patients with X-linked adrenoleukodystrophy. Pediatr Neurol,2005,33 : 114-120.
  • 4Moser 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.
  • 5Yasuyuki S, Yasuhiko T,Nobuyuki S, et aL Natural history of X-linked adrenoleukedystrophy in Japan. Brain Dev, 2005,27:353-357.
  • 6Kok F, Neumann S, Sarde CO, et al. Mutational analysis of patients with X-linked adrenoleukodystrophy. Hum Mutat, 1995, 6: 104-115.
  • 7Laureti 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.
  • 8Miner 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.
  • 9Barkovich 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.
  • 10Coll M J, Palau N, Camps C, et al. X-linked adrenoleukodystrophy in Spain. Identification of 26 novel mutations in the ABCD1 gene in 80 patients. Improvement of genetic counseling in 162 relative females. Clin Genet, 2005, 67 :418-424.

共引文献20

同被引文献27

引证文献2

二级引证文献2

中国小儿急救医学
2014年 第12期

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