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Papers of the Week

2022 Jul




Complicated Diverticulitis in a 35-Year-Old Patient With Williams Syndrome: A Case Report.


Raber MKM, Bowling SM, Dorn M
Cureus. 2022 Jul; 14(7):e26604.
PMID: 35936144.


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.