脑白质病的诊断进展。

Expert opinion on medical diagnostics Pub Date : 2012-07-01 Epub Date: 2012-06-05 DOI:10.1517/17530059.2012.665869
Sakkubai Naidu, Doris D M Lin
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引用次数: 0

摘要

简介:脑白质病(lees)是一种涉及脑白质的多种疾病。一些疾病可能是传染性的或免疫介导的,因此,往往更容易治疗。大多数这些疾病都有遗传基础,遗传咨询变得很重要,因为目前很少有有效的治疗方法。涵盖领域:本综述呼吁对诊断困境的关注,强调了用于分离具有相似临床、实验室或神经影像学结果的疾病的诊断测试的选择,并描述了近20年来新发现的几种LEs。自引入磁共振成像(MRI)和光谱学(MRS)以来,LEs的成像进展迅速,可以识别新的疾病,有或没有可识别的相应生化或遗传缺陷。本文描述了LEs的区别MRI和MRS特征,以及用于诊断和区分先前已知LEs的生化,CSF和血液样本测试的可用资源。专家意见:虽然目前没有治疗许多LEs的方法,但检测到它们是智力和运动障碍的原因,以及遗传疾病,因此有必要对它们进行准确分类。这些知识将有助于进一步阐明病因,了解生物学基础,并最终朝着合理治疗的方向发展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Advances in the diagnosis of leukoencephalopathies.

Introduction : Leukoencephalopathies (LEs) are a diverse group of diseases involving cerebral white matter. Some of the disorders may be infectious or immunologically mediated and, therefore, tend to be more amenable to treatment. Most of these disorders have a genetic basis, for which genetic counseling becomes important as currently very few of them have effective therapies. Areas covered : This review calls attention to the diagnostic dilemmas, highlights the diagnostic tests of choice for separating conditions with similar clinical, laboratory or neuroimaging findings, and describes several LEs that have been newly discovered within the last 20 years. Imaging of LEs has progressed rapidly since the introduction of magnetic resonance imaging (MRI) and spectroscopy (MRS), allowing recognition of new diseases, with and without identifiable corresponding biochemical or genetic defects. The distinguishing MRI and MRS features of LEs are described, as well as the resources available for biochemical, CSF and blood sample testing for diagnosis and differentiation from previously known LEs. Expert opinion : Although there is no treatment at present for many of the LEs, their detection as a cause of intellectual and motor disabilities, and as inherited disorders, makes it necessary to accurately categorize them. This knowledge will then allow further elucidation of the etiology, understanding the biological underpinnings, and eventually progress toward rational therapies.

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