Lin I Chun, Ko Sheung Fat, Shieh Chie Song, Huang Chien Fu, Chien Shao Ju, Liang Chi Di
Department of Pediatric Cardiology and Radiology, Chang Gung Children's Hospital, Chang Gung University, 123 Ta Pei Road, Niao Sung Hsiang, Taoyuan, Kaohsiung, Taiwan.
Cardiovasc Intervent Radiol. 2006 Sep-Oct;29(5):920-3. doi: 10.1007/s00270-005-0154-5.
Ehlers-Danlos syndrome (EDS) includes a group of connective tissue disorders with abnormal collagen metabolism and a diverse clinical spectrum. We report two siblings with EDS who both presented with congenital diaphragmatic hernia (CDH). The elder sister suffered from recurrent diaphragmatic hernia twice and EDS was overlooked initially. Echocardiography as well as contrast-enhanced magnetic resonance angiography (MRA) showed dilatation of the pulmonary artery, and marked elongation and tortuosity of the aorta and its branches. A diagnosis of EDS was eventually established when these findings were coupled with the clinical features of hyperelastic skin. Her younger brother also had similar features. This report emphasizes that EDS may present as CDH in a small child which could easily be overlooked. Without appropriate surgery, diaphragmatic hernia might occur. Echocardiographic screening is recommended in patients with CDH. Contrast-enhanced MRA can be helpful in delineation of abnormally tortuous aortic great vessels that are an important clue to the early diagnosis of EDS.
埃勒斯-当洛综合征（EDS）是一组胶原代谢异常的结缔组织疾病，临床谱多样。我们报告了两名患有EDS的同胞，他们均表现为先天性膈疝（CDH）。姐姐曾两次患复发性膈疝，最初EDS被漏诊。超声心动图以及对比增强磁共振血管造影（MRA）显示肺动脉扩张，主动脉及其分支明显延长和迂曲。当这些发现与皮肤弹性过度的临床特征相结合时，最终确诊为EDS。她的弟弟也有类似特征。本报告强调，EDS在幼儿中可能表现为CDH，容易被忽视。若不进行适当手术，可能会发生膈疝。建议对CDH患者进行超声心动图筛查。对比增强MRA有助于描绘异常迂曲的主动脉大血管，这是早期诊断EDS的重要线索。
