Cecal volvulus with Cornelia de Lange syndrome: Clinical and radiological findings

Abstract

Cecal volvulus is very rare in pediatric patients but is often reported among those with multiple, severe disabilities, especially Cornelia de Lange syndrome. Early diagnosis prevents intestinal necrosis and is therefore paramount. Delayed diagnosis and treatment may lead to increased mortality in these patients.

In our department, 13 patients with Cornelia de Lange syndrome are currently being followed. Of these patients, four had cecal volvulus and presented either typical findings or dramatic changes on plain abdominal radiographs. Subsequent, preoperative contrast-enhanced CT suggested cecal volvulus in all the patients. A comparison of patients with and without cecal volvulus showed that all patients with cecal volvulus had a history of fundoplication, which is suggested to be a contributing factor for volvulus. Compared with past reports, the mortality and complication rates were lower in the present cases. Whenever children with Cornelia de Lange syndrome and a history of a fundoplication present intestinal symptoms, cecal volvulus should be suspected, and plain abdominal radiography followed by prompt contrast-enhanced CT should be performed for early diagnosis and treatment.