An unusual presentation of transverse colon volvulus in a patient with Williams Syndrome: Case report and literature review.

ABSTRACT:

Introduction

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.

Case presentation

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.

Conclusion

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.

SUBMITTER: Younus S 

PROVIDER: S-EPMC9422352 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature