Younus Shifa, Sadiq Zainab, Momin Muhammad Ali, Maqsood Hamza
Nishtar Medical University and Hospital, Multan, Pakistan.
Ann Med Surg (Lond). 2022 Jul 31;80:104310. doi: 10.1016/j.amsu.2022.104310. eCollection 2022 Aug.
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.
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.
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.
及重要性：威廉姆斯综合征（WS）是一种公认的遗传性疾病，具有多系统临床表现。然而，威廉姆斯综合征患者伴有非常罕见的胃肠道并发症。我们报告了首例成年期预诊断为威廉姆斯综合征的患者发生横结肠扭转（TCV）的病例。
我们报告了一例22岁的南亚成年人，其主诉为进行性全腹疼痛、腹胀、胆汁性呕吐和便秘。详细的病史、体格检查和影像学检查确诊为横结肠扭转。实施了端到端吻合的结肠次全切除术。
由于先天性/生理易患因素，威廉姆斯综合征患者可发生如横结肠扭转等罕见的胃肠道并发症。这是一种外科急症，应进行最佳的诊断和处理。此外，医生在诊治出现急性或亚急性腹痛的威廉姆斯综合征患者时，应将横结肠扭转列入鉴别诊断范围。
