Kinnane J, Priebe C, Caty M, Kuppermann N
Division of Emergency Medicine, Children's Hospital, Boston, Massachusetts, USA.
Pediatr Emerg Care. 1995 Aug;11(4):230-2. doi: 10.1097/00006565-199508000-00010.
We report a case of a 13-year-old girl who presented with acute abdominal pain secondary to a sigmoid colon perforation. History, physical examination, and laboratory and radiographic studies were all suggestive, though not diagnostic, of an abdominal catastrophe. Her father died at the age of 30 from complications of bowel perforations and a vascular aneurysm. The unusual operative findings in our patient, together with her father's medical history, lead to the underlying diagnosis of Ehlers-Danlos syndrome. Knowledge of this family history at the time of presentation could have aided in diagnosis. Clinical manifestations and etiology of Ehlers-Danlos syndrome are discussed.
我们报告一例13岁女孩,因乙状结肠穿孔出现急性腹痛。病史、体格检查、实验室及影像学检查均提示(虽不能确诊)存在腹部急症。她的父亲30岁时死于肠穿孔和血管动脉瘤并发症。我们患者不寻常的手术发现,连同她父亲的病史,最终诊断为埃勒斯-当洛综合征。就诊时了解该家族史有助于诊断。本文讨论了埃勒斯-当洛综合征的临床表现及病因。