Sedel F, Tourbah A, Fontaine B, Lubetzki C, Baumann N, Saudubray J-M, Lyon-Caen O
Federation of Nervous System Diseases, Hôpital de la Salpêtrière and Université Pierre et Marie Curie (Paris VI), Assistance Publique-Hôpitaux de Paris, Paris, France.
J Inherit Metab Dis. 2008 Jun;31(3):295-307. doi: 10.1007/s10545-008-0778-0. Epub 2008 Feb 25.
The discovery of a leukoencephalopathy is a frequent situation in neurological practice and the diagnostic approach is often difficult given the numerous possible aetiologies, which include multiple acquired causes and genetic diseases including inborn errors of metabolism (IEMs). It is now clear that IEMs can have their clinical onset from early infancy until late adulthood. These diseases are particularly important to recognize because specific treatments often exist. In this review, illustrated by personal observations, we give an overview of late-onset leukoencephalopathies caused by IEMs.
在神经科临床实践中，白质脑病的发现很常见，鉴于众多可能的病因，包括多种后天性病因和遗传性疾病（包括先天性代谢缺陷病，IEMs），其诊断方法往往很困难。现在很清楚，IEMs的临床发病可从婴儿早期一直到成年晚期。认识这些疾病尤为重要，因为通常有特定的治疗方法。在本综述中，结合个人观察，我们概述了由IEMs引起的迟发性白质脑病。
