Leake Tessa Frances, Singhal Tarun, Chandra Aninda, Ashcroft Alexandra, Doddi Sudeendra, Hussain Abdulzahra, Smedley Frank
Department of General and Colorectal Surgery, Princess Royal University Hospital, Farnborough Common, Orpington, Greater London, Kent, BR6 8ND, UK.
Cases J. 2010 Feb 12;3:57. doi: 10.1186/1757-1626-3-57.
Patients who present with a co-existing connective tissue disorder add a degree of complexity to operative intervention. We present an unusual case of a 53-year-old Caucasian female patient with Ehlers Danlos syndrome who presented with an occult perforation of the distal ileum. The patient had known small bowel diverticulae yet the perforation occurred within the normal bowel wall. The pre-operative CT only showed malrotation of the large bowel and did not correlate with the intra-operative findings. Our case has highlighted that although small bowel perforation is a rare occurrence, it may be more common in Ehlers Danlos and may present with atypical features. Perforation may also occur alongside normal bowel as well as diverticulae within the bowel. Where diverticulae exists within a patient with Ehlers Danlos syndrome and there is some diagnostic uncertainty, there should be a lower threshold for operative intervention. We present in the discussion a number of salient features and learning points.
患有并存结缔组织疾病的患者会给手术干预带来一定程度的复杂性。我们报告了一例不寻常的病例，一名53岁患有埃勒斯-当洛综合征的白种女性患者，出现回肠末端隐匿性穿孔。该患者已知有小肠憩室，但穿孔发生在正常肠壁内。术前CT仅显示大肠旋转不良，与术中发现不相关。我们的病例突出表明，尽管小肠穿孔很少见，但在埃勒斯-当洛综合征中可能更常见，且可能表现出非典型特征。穿孔也可能发生在正常肠段以及肠内憩室旁。在患有埃勒斯-当洛综合征且存在憩室且诊断存在一定不确定性的患者中，手术干预的阈值应更低。我们在讨论中提出了一些显著特征和经验教训。
