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婴儿型亚历山大病:病例报告及文献综述

Infantile Alexander Disease: Case Report and Review of Literature.

作者信息

Sarkar Soumyabrata, Sinha Rupam, Chakraborty Amitabha, Khaitan Tanya, Bhowmik Biyas

机构信息

Reader, Department of Oral Medicine and Radiology, Haldia Institute of Dental sciences and Research, Haldia, West Bengal, India.

Professor and Head, Department of Oral Medicine and Radiology, Haldia Institute of Dental sciences and Research, Haldia, West Bengal, India.

出版信息

J Clin Diagn Res. 2017 Jun;11(6):ZD14-ZD15. doi: 10.7860/JCDR/2017/26875.10106. Epub 2017 Jun 1.

Abstract

Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals. It presents in the first two years of life, typically with progressive psychomotor deficiency, loss of developmental milestones, seizures, and pyramidal signs. Clinical and magnetic resonance image findings usually establish diagnosis of AD. Here, we present a case of Infantile AD with characteristic clinical and radiological features.

摘要

亚历山大病(AD)是一种常染色体显性遗传性脑白质营养不良,主要发生于婴幼儿。通常在发病后十年内导致死亡。在四种亚型中,婴儿型累及的个体最多。它在生命的头两年发病,典型表现为进行性精神运动发育迟缓、发育里程碑丧失、癫痫发作和锥体束征。临床和磁共振成像结果通常可确诊AD。在此,我们报告一例具有典型临床和影像学特征的婴儿型AD病例。

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Infantile Alexander Disease: Case Report and Review of Literature.婴儿型亚历山大病:病例报告及文献综述
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本文引用的文献

5
Alexander's disease: reassessment of a neonatal form.
Childs Nerv Syst. 2012 Dec;28(12):2029-31. doi: 10.1007/s00381-012-1868-8. Epub 2012 Aug 14.
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Childhood leukodystrophies: a clinical perspective.儿童脑白质营养不良:临床视角。
Expert Rev Neurother. 2011 Oct;11(10):1485-96. doi: 10.1586/ern.11.135.
7
Neonatal Alexander disease: MR imaging prenatal diagnosis.新生儿亚历山大病:磁共振成像产前诊断
AJNR Am J Neuroradiol. 2008 Nov;29(10):1973-5. doi: 10.3174/ajnr.A1215. Epub 2008 Jul 24.

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