Suarez B, Caldera A, Castillo M
Department of Neuroradiology, University of North Carolina, Chapel Hill, North Carolina 27599-7510, USA.
Interv Neuroradiol. 2011 Mar;17(1):9-11. doi: 10.1177/159101991101700102. Epub 2011 Apr 18.
We describe a boy with Loeys-Dietz syndrome (LDS) a genetic and recently described condition that affects connective tissues belonging to a group of Marfan-related disorders. Since there are only a few cases reported misdiagnosis may not be uncommon. Radiological findings in our patient include pectus excavatum, aortic root dilatation, diffuse dilatation of the intracerebral vessels and a Chiari I malformation. We describe the imaging findings, clinical presentation and diagnosis criteria of this entity.
我们描述了一名患有洛伊迪茨综合征（LDS）的男孩，这是一种遗传性疾病，最近才被描述，属于一组与马凡综合征相关的结缔组织疾病。由于报道的病例较少，误诊可能并不罕见。我们患者的影像学表现包括漏斗胸、主动脉根部扩张、脑内血管弥漫性扩张和Chiari I畸形。我们描述了该疾病的影像学表现、临床表现和诊断标准。
