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儿童脑白质病和脑白质营养不良的报告方法。

An approach to reporting paediatric leukoencephalopathy and leukodystrophies.

机构信息

Radiology Department, Children's Hospital, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Radiology Department, Children's Hospital, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

出版信息

Clin Radiol. 2023 Jun;78(6):401-411. doi: 10.1016/j.crad.2023.02.011. Epub 2023 Mar 3.

DOI:10.1016/j.crad.2023.02.011
PMID:36990927
Abstract

The leukodystrophies (LD) and leukoencephalopathies (LE) are a diverse group of conditions involving the cerebral white and grey matter. There is heterogeneity in the clinical presentations, imaging features, and biochemical dysfunction. Given the number of conditions and varied imaging appearances, this topic can be difficult for non-specialist radiologists who do not routinely work in dedicated paediatric neuroradiology centres. This article will aim to provide a simplified and step-wise approach to assessing suspected LD/LE, focussing on the more common diagnoses you may encounter in the UK. Additionally, it will highlight important non-LD/LE differentials, which if considered early, may significantly alter treatment and prognosis. By the end of this review, we hope the reader will begin to develop an awareness of physiological paediatric brain development in terms of normal myelination; the ability to recognise and categorise the distribution of abnormal signal based on the established diagnostic framework outlined by Schiffmann & Van der Knapp; and be aware of potential non-LD/LE radiological mimics.

摘要

脑白质营养不良(LD)和脑白质病(LE)是一组涉及脑白质和灰质的多种疾病。其临床表现、影像学特征和生化功能障碍存在异质性。鉴于疾病种类繁多且影像学表现多样,对于不在专门的儿科神经放射学中心工作的非专业放射科医生来说,这个主题可能很难理解。本文旨在提供一种简化的、分步骤的方法来评估疑似 LD/LE,重点介绍在英国可能遇到的更常见的诊断。此外,它还将突出重要的非 LD/LE 鉴别诊断,如果早期考虑这些鉴别诊断,可能会显著改变治疗和预后。通过本次综述,我们希望读者能够开始意识到正常髓鞘化的小儿脑生理发育;能够根据 Schiffmann 和 Van der Knapp 提出的既定诊断框架识别和分类异常信号的分布;并意识到潜在的非 LD/LE 影像学模拟。

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Adult-onset leukodystrophies: a practical guide, recent treatment updates, and future directions.成人起病的脑白质营养不良:实用指南、近期治疗进展及未来方向。
Front Neurol. 2023 Jul 26;14:1219324. doi: 10.3389/fneur.2023.1219324. eCollection 2023.