PDF(Pubmed)
Abstract：
Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects medium and large size arteries, leading to widespread elongation and intensification of the average vessel tortuousness, responsible of several loops and kinks. Like other connective tissue disorders, ATS can present with joint laxity, hernias, pectus excavatum, scoliosis or other musculoskeletal abnormalities, and ocular defects. Due to the extreme variability of clinical symptoms and the fact that ATS has no curative management, prompt diagnosis is of tremendous importance to prevent disease-associated complications. In this situation, imaging techniques have a central role. In this study, we describe a rare case of a male newborn with tortuosity and lengthening of the main arterial and venous medium and large caliber branches with associated aortic coarctation who passed away prematurely. The finding of aortic coarctation in a newborn with ATS has rarely been described in the literature.
摘要：
动脉弯曲综合征（ATS）是一种非常罕见的常染色体隐性遗传疾病，会影响结缔组织。ATS的发病率尚不为人所知，迄今为止，文献中仅描述了106例患者。ATS会影响中型和大型动脉，导致平均血管弯曲的广泛延伸和加剧，负责几个循环和扭结。像其他结缔组织疾病一样，ATS可以表现为关节松弛，疝气,漏斗胸,脊柱侧凸或其他肌肉骨骼异常，和眼部缺陷。由于临床症状的极端变异性以及苯丙胺类兴奋剂没有治愈性治疗的事实，及时诊断对预防疾病相关并发症非常重要.在这种情况下,成像技术具有核心作用。在这项研究中,我们描述了一例罕见的男性新生儿，其主要动脉和静脉中和大口径分支弯曲并延长，并伴有相关的主动脉缩窄，过早去世。文献中很少描述患有ATS的新生儿主动脉缩窄的发现。
