关键词: Case report Congenital Constipation Transverse colon volvulus Volvulus Williams syndrome Case report Congenital Constipation Transverse colon volvulus Volvulus Williams syndrome

来  源:   DOI:10.1016/j.amsu.2022.104310   PDF(Pubmed)

Abstract:
UNASSIGNED: and Importance: Williams Syndrome (WS) is a well-recognized genetic disorder characterized by multi-system clinical manifestations. However, there are very rare gastrointestinal complications associated with patients with Williams Syndrome. We report the first transverse colon volvulus (TCV) case in an adult with pre-diagnosed Williams Syndrome.
UNASSIGNED: We report a case of a 22-year-old South Asian adult who presented with complaints of generalized progressive abdominal pain, distension, bilious vomiting, and constipation. Detailed history, physical examination, and radiological investigations confirmed the diagnosis of transverse colon volvulus. A subtotal colectomy with end-to-end anastomosis was done.
UNASSIGNED: Patients with Williams Syndrome can develop rare gastrointestinal complications like transverse colon volvulus due to congenital/physiological predisposing factors. It is a surgical emergency and should be diagnosed and managed optimally. In addition, physicians should keep TCV in differential diagnoses while dealing with patients of Williams Syndrome presenting with acute or subacute abdominal pain.
摘要:
未经证实:和重要性:威廉姆斯综合征(WS)是一种公认的遗传性疾病,其特征是多系统临床表现。然而,与威廉姆斯综合征患者相关的胃肠道并发症非常罕见。我们报告了第一例患有预诊断的威廉姆斯综合征的成人横结肠扭转(TCV)病例。
未经评估:我们报告了一例22岁的南亚成年人,主诉广泛性进行性腹痛,扩张,胆汁性呕吐,还有便秘.详细的历史,体检,放射学检查证实了横结肠扭转的诊断。进行了端到端吻合的结肠次全切除术。
UNASSIGNED:由于先天性/生理性因素,威廉姆斯综合症患者会出现罕见的胃肠道并发症,例如横结肠扭转。这是一种外科紧急情况,应进行最佳诊断和管理。此外,医师在治疗出现急性或亚急性腹痛的Williams综合征患者时,应在鉴别诊断中保留TCV.
公众号