Vedolin Leonardo
From the Department of Internal Medicine, Universidade Federal do Rio Grande do Sul; and Radiology Service, Hospital de Clinicas de Porto Alegre and Hospital Moinhos de Vento, Porto Alegre, Brazil.
Top Magn Reson Imaging. 2011 Oct;22(5):215-22. doi: 10.1097/RMR.0b013e318295b416.
Inherited white matter disorders of childhood (WMDC) refer to a broad group of progressive inherited disorders that exclusively or predominantly affect myelin formation and/or maintenance. They are often in the form of neurological deficits, developmental delay, or frank encephalopathy and are difficult to diagnose clinically. The imaging diagnostic approach for the WMDC is difficult and demands knowledge of neuroimaging features, age of onset of the disease, genetic pattern, and recognition of the most important clinical findings. Unfortunately, the variability and evolving patterns of imaging findings, combined with the continual discovery of new metabolic diseases, make establishing a diagnosis difficult for radiologists who lack experience in the imaging of suspected metabolic diseases. The goal of this article was to present a structured neuroimaging approach to inherited WMDC based on the most discriminating magnetic resonance imaging features as the starting point to create a list of the most probable diagnoses.
儿童遗传性白质疾病（WMDC）指的是一大类进行性遗传性疾病，这些疾病专门或主要影响髓鞘形成和/或维持。它们常表现为神经功能缺损、发育迟缓或明显的脑病，临床诊断困难。WMDC的影像学诊断方法具有挑战性，需要了解神经影像学特征、疾病发病年龄、遗传模式以及识别最重要的临床发现。不幸的是，影像学表现的变异性和不断变化的模式，再加上新的代谢性疾病不断被发现，使得缺乏疑似代谢性疾病影像学经验的放射科医生难以做出诊断。本文的目的是基于最具鉴别力的磁共振成像特征，提出一种针对遗传性WMDC的结构化神经影像学方法，以此作为创建最可能诊断清单的起点。
