PDF(Pubmed)
Abstract：
Williams syndrome is caused by a deletion of the elastin gene on chromosome 7. One of the main roles of this gene is to maintain the strength and elasticity of the intestinal wall, and the absence of the elastin gene may predispose these patients to gastrointestinal pathology such as diverticulitis. Our patient was a 35-year-old Caucasian female with Williams syndrome who presented to the emergency department with diffuse abdominal pain for two days. A computed tomography (CT) scan of her abdomen and pelvis initially showed locally perforated sigmoid diverticulitis with pelvic abscess and acute peritonitis. Surgical management was indicated after the patient failed to respond to conservative treatment. She was treated with Hartmann\'s procedure which showed purulent peritoneal fluid intraoperatively. Her hospital course was complicated by postoperative ileus and a peri-incisional abscess. After a 15-day hospital stay, she was discharged home with plans for ostomy reversal in six months. Patients with Williams syndrome have an increased risk of developing diverticulitis at a younger age than the general population due to their propensity for chronic constipation stemming from their child-like eating habits and low dietary fiber. Thus, we emphasize the importance of treating constipation in patients with Williams syndrome to prevent diverticulitis. If these patients present to the emergency department with acute diverticulitis, aggressive surgical management may be beneficial because rapid progression could ensue.
摘要：
威廉姆斯综合征是由7号染色体上的弹性蛋白基因缺失引起的。该基因的主要作用之一是维持肠壁的强度和弹性，弹性蛋白基因的缺失可能使这些患者易患胃肠道病理，如憩室炎。我们的患者是一名35岁的白人女性，患有威廉姆斯综合征，她因弥漫性腹痛到急诊科就诊两天。她的腹部和骨盆的计算机断层扫描（CT）扫描最初显示局部穿孔乙状结肠憩室炎伴盆腔脓肿和急性腹膜炎。在患者对保守治疗无效后，需要进行手术治疗。她接受了Hartmann手术治疗，术中显示化脓性腹膜液。她的住院过程因术后肠梗阻和切口周围脓肿而复杂化。住院15天后,她出院回家，计划在六个月内逆转造口术。与一般人群相比，威廉姆斯综合征患者在年龄较小的时候发生憩室炎的风险增加，原因是他们的儿童饮食习惯和低膳食纤维导致的慢性便秘倾向。因此，我们强调治疗Williams综合征患者便秘对预防憩室炎的重要性.如果这些患者出现在急诊科急性憩室炎，积极的手术管理可能是有益的，因为快速进展可能随之而来。
