Costello Daniel J, Eichler April F, Eichler Florian S
Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
Neurologist. 2009 Nov;15(6):319-28. doi: 10.1097/NRL.0b013e3181b287c8.
The leukodystrophies are a heterogeneous group of diseases, which primarily affect white matter. Symptomatic patients are frequently misdiagnosed and the leukodystrophies are collectively under recognized. However, with ongoing research and increased availability of neuroimaging, our understanding of these diseases is increasing at a steady rate. Recent advances in the diagnosis and treatment of certain forms of leukodystrophy should prompt increased awareness of these diseases in clinical practice.
The clinical features, pathophysiology, and therapeutic approach to these diseases are described. Particular emphasis is placed on genetic and pathophysiologic mechanisms, imaging patterns, screening of other family members and, where available, treatment options and resources.
With more widespread use of neuroimaging, both pediatric and adult neurologists will increasingly be confronted with white matter disorders. Neurologists should have an approach to the recognition, diagnosis, and management of white matter diseases in general and the leukodystrophies in specific.
脑白质营养不良是一组异质性疾病，主要影响白质。有症状的患者常被误诊，脑白质营养不良总体上未得到充分认识。然而，随着研究的不断深入和神经影像学检查的日益普及，我们对这些疾病的认识正稳步提高。某些形式脑白质营养不良的诊断和治疗方面的最新进展应促使临床实践中对这些疾病的认识有所提高。
描述了这些疾病的临床特征、病理生理学和治疗方法。特别强调了遗传和病理生理机制、影像学表现、对其他家庭成员的筛查，以及在可行情况下的治疗选择和资源。
随着神经影像学检查的更广泛应用，儿科和成人神经科医生将越来越多地面对白质疾病。神经科医生应掌握一般白质疾病以及特定脑白质营养不良的识别、诊断和管理方法。
