PDF(Pubmed)
Abstract：
Williams syndrome was first reported by Williams and Beuren in 1961-1962. It is a genetic disorder that is caused by a sporadic microdeletion of chromosome 7, which includes the elastin gene. The development of gastrointestinal pathology, such as diverticular disease, is associated with the deletion of this specific gene. Almost one-third of patients with Williams syndrome develop diverticular disease. The first episode of diverticulitis appears in 8% of patients, diagnosed with Williams syndrome, before the age of 40. According to the literature, in the case of complicated diverticulitis (Hinchey III) in patients with WS, the treatment is mainly surgical resection of sigmoid and colostomy (Hartmann procedure) or anastomosis. We present an interesting case with a 31-year-old male, with Williams syndrome and Hinchey III diverticulitis, who underwent laparoscopic lavage and primary closure of the perforation. To our knowledge, this is the first case in literature that a patient with Williams syndrome and complicated diverticulitis (Hinchey III) was treated this way and the results until now are encouraging.
摘要：
威廉姆斯综合征最早由威廉姆斯和贝伦在1961-1962年报道。它是由包括弹性蛋白基因的7号染色体的零星微缺失引起的遗传性疾病。胃肠道病理学的发展，比如憩室病,与这个特定基因的缺失有关。近三分之一的威廉姆斯综合征患者发展为憩室病。首次发作的憩室炎出现在8%的患者中，诊断为威廉姆斯综合症,在40岁之前。根据文献,在WS患者的复杂性憩室炎（HincheyIII）的情况下，治疗主要是乙状结肠造口术（Hartmann手术）或吻合术。我们介绍了一个31岁男性的有趣案例，Williams综合征和HincheyIII憩室炎,他们接受了腹腔镜灌洗和穿孔的初次闭合。据我们所知,这是文献中首例以这种方式治疗Williams综合征和复杂性憩室炎(HincheyIII)患者的病例,迄今为止的结果令人鼓舞.
