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一名年轻女性特发性血小板减少症与神经系统表现,最终诊断为威尔逊氏病

Idiopathic Thrombocytopenia and Neurologic Manifestations in A Young Female Leading to the Diagnosis of Wilson's Disease.

作者信息

Zaheryany Seyed Mohammad Salar, Bidaki Reza, Hemmatian Brujeni Nahid, Rezvani Mohammad, Hakim Shooshtari Mitra

机构信息

Tehran University of Medical Sciences, Tehran, Iran.

MD. Assistant Professor of Psychiatry, Rafsanjan University of Medical Science Department of Psychiatry, Rafsanjan, Iran.

出版信息

Iran J Psychiatry Behav Sci. 2012 Fall;6(2):96-9.

PMID:24644489
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3940014/
Abstract

We present a 19-year-old patient with hematologic and neurologic manifestations associated with Wilson's disease. Idiopathic thrombocytopenia was diagnosed in October 2009. Bone marrow aspiration was normal. Gradually her neurologic and psychiatric symptoms emerged, dysarthria, writing apraxia, learning difficulties, emotionalism and eventually dystonia of hands. The serum ceruloplasmin was low, and the Kayser Fleischer's ring was positive. MRI of the brain showed abnormality in the bilateral basal ganglia, brain stem and superior cerebellar peduncles without post-contrast enhancement.

摘要

我们报告一名19岁患有与威尔逊病相关的血液学和神经学表现的患者。2009年10月诊断为特发性血小板减少症。骨髓穿刺结果正常。逐渐地,她出现了神经和精神症状,构音障碍、书写失用症、学习困难、情绪不稳定,最终出现手部肌张力障碍。血清铜蓝蛋白水平低,且凯-弗环阳性。脑部MRI显示双侧基底神经节、脑干和小脑上脚异常,增强扫描后无强化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4409/3940014/ff531d11906e/ijpbs-006-096-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4409/3940014/b5afd98bc689/ijpbs-006-096-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4409/3940014/c9320045cc36/ijpbs-006-096-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4409/3940014/ff531d11906e/ijpbs-006-096-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4409/3940014/b5afd98bc689/ijpbs-006-096-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4409/3940014/c9320045cc36/ijpbs-006-096-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4409/3940014/ff531d11906e/ijpbs-006-096-g003.jpg

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Idiopathic Thrombocytopenia and Neurologic Manifestations in A Young Female Leading to the Diagnosis of Wilson's Disease.一名年轻女性特发性血小板减少症与神经系统表现,最终诊断为威尔逊氏病
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本文引用的文献

1
Wilson's disease.威尔逊氏病
Lancet. 2007 Feb 3;369(9559):397-408. doi: 10.1016/S0140-6736(07)60196-2.
2
[Wilson's disease associated with olfactory paranoid syndrome and idiopathic thrombocytopenic purpura].[与嗅觉妄想综合征及特发性血小板减少性紫癜相关的威尔逊病]
No To Shinkei. 2003 Oct;55(10):899-902.
3
[Thrombotic thrombocytopenic purpura-hemolytic uremic syndrome (TTP-HUS) leading to the diagnosis of Wilson's disease].[血栓性血小板减少性紫癜-溶血性尿毒症综合征(TTP-HUS)导致威尔逊病的诊断]
Vnitr Lek. 2002 Apr;48(4):353-6.
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Estimate of the frequency of Wilson's disease in the US Caucasian population: a mutation analysis approach.美国白种人群中威尔逊病发病率的估计:一种突变分析方法。
Ann Hum Genet. 2001 Sep;65(Pt 5):459-63. doi: 10.1017/S0003480001008764.
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Haemolytic onset of Wilson disease in a patient with homozygous truncation of ATP7B at Arg1319.一名ATP7B基因在第1319位精氨酸处发生纯合性截短的患者出现威尔逊病的溶血性发作。
Br J Haematol. 2001 Jul;114(1):230-2. doi: 10.1046/j.1365-2141.2001.02899.x.
6
Idiopathic thrombocytopenia associated with Wilson's disease.与威尔逊病相关的特发性血小板减少症。
Hepatogastroenterology. 1998 Sep-Oct;45(23):1774-6.
7
An assessment of efficiency in potential screening for Wilson's disease.对威尔逊氏病潜在筛查效率的评估。
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