Sigmoid Volvulus: An Underestimated Cause of Intestinal Obstruction in Cornelia de Lange Syndrome

Abstract

An 11-year-old girl with Cornelia de Lange syndrome in its autistic form presented for acute bout of meteorism, abdominal pain, and food refusal. She had no fever or signs of sepsis. In her past history, she had suckling failure, severe gastroesophageal reflux that led to early Nissen fundoplicature and gastrostomy, the latter being removed at age 18 months. Since, recurrent abdominal meteorism was reported but no etiology was found despite exhaustive investigations. At the time of her acute bout of pain, plain abdominal radiograph (Figure 1) and computed tomography scan revealed a sigmoid volvulus (Figure 2; available at www.jpeds.com). A sigmoidoscopy with coloexsufflation was first performed with immediate clinical release. Recurrence at day 2 prompted open sigmoidectomy with primary anastomosis and did not reveal any adherences. The postoperative course was uneventful and she was well at 6-month follow-up. Cornelia de Lange syndrome is a cohesinopathy characterized by severe growth failure, intellectual disability, and distinctive physical anomalies. The main gastrointestinal disorder associated with Cornelia de Lange syndrome is severe gastroesophageal reflux whilst occlusive disorders are mainly related to postsurgical adhesions with rare cases of cecal volvulus. 1 Despite being well-known in adults, sigmoid volvulus is a rare but life-threatening condition in childhood. Though challenging to diagnose, sigmoid volvulus could hence be an underestimated cause of intestinal obstruction and digestive perforation leading to death in patients with Cornelia de Lange syndrome. 2,3 Sigmoid volvulus should be carefully considered as a potential cause of atypical or recurrent gastrointestinal symptoms in children having Cornelia de Lange syndrome to allow early and accurate management and thereby decrease its related morbidity and mortality. n