Poretti Andrea, Boltshauser Eugen, Huisman Thierry A G M
Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins University School of Medicine, Baltimore, Maryland.
Division of Pediatric Neurology, University Children's Hospital, Zurich, Switzerland.
Semin Neurol. 2014 Jul;34(3):239-48. doi: 10.1055/s-0034-1386762. Epub 2014 Sep 5.
In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments.
在过去二十年中,神经成像和基因技术取得了重大进展,这使得先天性脑异常的正确定义/分类得以推进,从而更好地理解了其发病机制。此外,越来越多报道了新的疾病类型,如轴突导向障碍或微管蛋白病。针对大多数先天性脑异常,已经提出了明确的神经成像诊断标准。准确诊断这些复杂异常,包括区分畸形和破坏,对于管理、预后及家庭咨询至关重要。在未来十年,有望将这些进展转化为对这些疾病更深入的理解以及更具针对性的治疗方法。