Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1
Neuroradiologic Manifestations of Loeys-Dietz Syndrome Type 1
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DOI：
10.3174/ajnr.a1651
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发表时间：
2009-09-01
影响因子：
3.5
通讯作者：
Yousem, D. M.
中科院分区：
文献类型：
--
作者：
Rodrigues, V. J.;Elsayed, S.;Yousem, D. M.
背景与目的：Loeys-Dietz综合征（LDS）是一种最近被发现的具有动脉扭曲和动脉瘤、远端过远、小舌裂或腭裂三联征的疾病。其神经放射学表现尚未明确。我们试图描述LDS的神经放射学特征，并评估其表现，以保证后续影像学检查。材料和方法：两名神经放射学家回顾性回顾了25例1至55岁的头颈部CT血管造影（CTA）、MR成像和平片研究，这些患者均有LDS的基因检测阳性和临床特征。通过主观评价二维和三维体积CTA和MR血管造影数据来评估动脉扭曲程度。通过平片和CT图像评估颅缝闭合和脊柱表现。回顾了大部分头部的MR图像，以寻找相关的发现，如脑积水，Chiari畸形等。从电子病历中整理临床表现。结果：所有患者均有动脉极度扭曲，这是该综合征的特征。13例脊柱侧凸，12例颅缝闭锁，8例颅内动脉瘤，6例脊柱不稳定，3例颈动脉和椎基底动脉夹层，3例脑积水，4例硬脑膜扩张，2例Chiari畸形，1例血管夹层并发症颅内出血。结论：明显的神经放射学表现与LDS相关，主要是动脉扭曲。本系列的大多数患者都是年轻人，因此，基于大多数假性动脉瘤和夹层患者在成像时年龄较大的事实，可能需要连续的CTA监测颅内和颅外夹层和动脉瘤的发展。LDS的其他表现，如颅缝闭锁、Chiari畸形和脊柱不稳定也可能需要解决。
BACKGROUND AND PURPOSE: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifestations that would warrant follow-up imaging.MATERIALS AND METHODS: Two neuroradiologists retrospectively reviewed CT angiography (CTA), MR imaging, and plain film studies related to the head and neck in 25 patients ranging from 1 to 55 years of age, all of whom had positive genetic testing and clinical characteristics of LDS. Arterial tortuosity was evaluated by subjective assessment of 2D and 3D volumetric CTA and MR angiography data. Craniosynostosis and spinal manifestations were assessed by using plain films and CT images. MR images mostly of the head were reviewed for associated findings such as hydrocephalus, Chiari malformation, etc. Clinical manifestations were collated from the electronic patient record.RESULTS: All patients had extreme arterial tortuosity, which is characteristic of this syndrome. Thirteen patients had scoliosis, 12 had craniosynostosis, 8 had intracranial aneurysms, 6 had spinal instability, 3 had dissections of the carotid and vertebrobasilar arteries, 3 had hydrocephalus, 4 had dural ectasia, 2 had a Chiari malformation, and 1 had intracranial hemorrhage as a complication of vascular dissection.CONCLUSIONS: Significant neuroradiologic manifestations are associated with LDS, predominantly arterial tortuosity. Most of the patients in this series were young and, therefore, may require serial CTA monitoring for development of intra- and extracranial dissections and aneurysms, on the basis of the fact that most of the patients with pseudoaneurysms and dissection were older at the time of imaging. Other findings of LDS such as craniosynostosis, Chiari malformation, and spinal instability may also need to be addressed.