Hamano K, Fujioka K, Kuga T, Fujimura Y, Tsubo H, Esato K
First Department of Surgery, Yamaguchi University, School of Medicine, Japan.
Nihon Kyobu Geka Gakkai Zasshi. 1994 Jan;42(1):116-20.
We here report on a rare case of Ehlers-Danlos syndrome type IV with impending ruptured thoracic aortic aneurysm in a young adult. A 38-year-old man complained of severe back pain and transient paralysis in both legs. He was diagnosed as having an impending ruptured thoracic descending aortic aneurysm. Emergency operation which was aneurysmectomy and reconstruction of the descending aorta was performed. The fact that the aneurysm (11 cm) in a patient was so large for his age and the abnormal subcutaneous fatty tissue suggested the existence of systemic metabolic disease. An analysis of collagen extracted from the patient revealed the absence of type III collagen. Furthermore, an electron microscopic analysis finding that the collagen fibrils was of non-uniform size lead to the diagnosis of Ehlers-Danlos syndrome, Type IV (arterial type). Postoperatively the patient suffered paralysis in both legs due to ischemia of the spinal cord. However, his general condition was stable. He was transferred to another hospital for rehabilitation of both legs 60 days after the operation. Although the physical signs usually associated with Ehlers-Danlos syndrome were absent in this case, diagnosis followed electrophoresis of collagen extracted from the patient. As a result of the above observation, we recommended analysis of collagen in cases where the size of the aneurysm or the age of the patient appear unusual even though physical signs of Ehlers-Danlos syndrome are absent.
我们在此报告一例罕见的IV型埃勒斯-当洛综合征（Ehlers-Danlos syndrome），患者为一名年轻成年人，患有即将破裂的胸主动脉瘤。一名38岁男性主诉严重背痛和双腿短暂性麻痹。他被诊断为患有即将破裂的胸降主动脉瘤。实施了紧急手术，即动脉瘤切除术和降主动脉重建术。该患者的动脉瘤（11厘米）相对于其年龄而言如此之大，以及异常的皮下脂肪组织提示存在全身性代谢疾病。对患者提取的胶原蛋白进行分析显示III型胶原蛋白缺失。此外，电子显微镜分析发现胶原纤维大小不均一，从而诊断为IV型埃勒斯-当洛综合征（动脉型）。术后患者因脊髓缺血而双腿麻痹。然而，他的总体状况稳定。术后60天，他被转至另一家医院进行双腿康复治疗。尽管该病例中通常与埃勒斯-当洛综合征相关的体征并不存在，但通过对患者提取的胶原蛋白进行电泳后得以确诊。基于上述观察结果，我们建议在动脉瘤大小或患者年龄看似异常，即便不存在埃勒斯-当洛综合征体征的情况下，对胶原蛋白进行分析。
