Barkovich A J
University of California, San Francisco, California 94143-0628, USA.
J Inherit Metab Dis. 2005;28(3):311-43. doi: 10.1007/s10545-005-5952-z.
Leukodystrophy is a common central nervous system manifestation of inborn errors of metabolism. Until magnetic resonance imaging (MRI) emerged as a clinical tool, the diagnosis of leukodystrophy was difficult and imprecise; MRI has allowed new understandings and classifications of leukodystrophies that have greatly enhanced both our diagnostic ability and our understanding of these complex disorders. However, optimal use of MRI in this setting requires a fundamental understanding of myelin structure, myelin development, and the changes seen on MRI with myelination and demyelination. The purpose of this review is to provide the reader with the necessary tools for the use of MRI to diagnose and follow patients with leukodystrophies.
脑白质营养不良是先天性代谢缺陷常见的中枢神经系统表现。在磁共振成像(MRI)作为一种临床工具出现之前,脑白质营养不良的诊断困难且不准确;MRI使人们对脑白质营养不良有了新的认识和分类,极大地提高了我们的诊断能力以及对这些复杂疾病的理解。然而,在这种情况下要想最佳地使用MRI,就需要对髓鞘结构、髓鞘发育以及MRI上髓鞘形成和脱髓鞘时所见到的变化有基本的了解。本综述的目的是为读者提供利用MRI诊断和随访脑白质营养不良患者所需的工具。