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儿童Chiari畸形与脊髓空洞症

Chiari Malformations and Syringohydromyelia in Children.

作者信息

Poretti Andrea, Boltshauser Eugen, Huisman Thierry A G M

机构信息

Section of Pediatric Neuroradiology, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins School of Medicine, Baltimore, MD.

Department of Pediatric Neurology, University Children׳s Hospital of Zurich, Zurich, Switzerland.

出版信息

Semin Ultrasound CT MR. 2016 Apr;37(2):129-42. doi: 10.1053/j.sult.2015.12.001. Epub 2015 Dec 10.

DOI:10.1053/j.sult.2015.12.001
PMID:27063663
Abstract

Chiari malformations are a heterogeneous group of disorders with distinct clinical anatomical features all of which involve the hindbrain. Our understanding of Chiari malformations increased tremendously over the past decades, and progress in neuroimaging was instrumental for that. Conventional and advanced neuroimaging of the brain and spine play a key role in the workup of children with suspected Chiari malformations. In addition, neuroimaging studies in Chiari malformations may guide the management, serve as a predictor of outcome, and shed light on the pathogenesis.

摘要

Chiari畸形是一组具有不同临床解剖特征的异质性疾病,所有这些疾病都累及后颅窝。在过去几十年里,我们对Chiari畸形的认识有了极大的提高,神经影像学的进展对此起到了重要作用。大脑和脊柱的传统及先进神经影像学检查在疑似Chiari畸形儿童的检查中起着关键作用。此外,Chiari畸形的神经影像学研究可指导治疗、作为预后的预测指标,并有助于阐明发病机制。

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Acta Neurol Belg. 2021 Dec;121(6):1547-1554. doi: 10.1007/s13760-020-01398-z. Epub 2020 Jun 10.
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Potential damaging mutation in LRP5 from genome sequencing of the first reported chimpanzee with the Chiari malformation.从首例患有 Chiari 畸形的黑猩猩的基因组测序中发现 LRP5 存在潜在的破坏性突变。
Sci Rep. 2017 Nov 9;7(1):15224. doi: 10.1038/s41598-017-15544-w.
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Chiari type 1 malformation, corpus callosum agenesis and patent craniopharyngeal canal in an 11-year-old boy.一名11岁男孩患有Chiari I型畸形、胼胝体发育不全及颅咽管开放。
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