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Complicated diverticular disease in a child with williams syndrome.

Williams syndrome (WS) is a rare multisystemic disorder characterized by distinctive facial features, mental retardation or learning difficulties, a unique cognitive and personality profile, infantile hypercalcemia, cardiovascular disease, and connective tissue abnormalities. The estimated prevalence of WS is 1 in 7500 live births. Gastrointestinal symptoms such as chronic abdominal pain, feeding problems, constipation, and gastroesophageal reflux disease are seen relatively frequently in children with WS (1). Among adults with WS, colonic diverticulosis has been reported with a frequency of 8% to 12% (2,3). By contrast, among children with WS, only 1 case of diverticular disease has been reported: in a 17-year-old boy. We report what we believe to be the youngest patient with WS with complicated colonic diverticular disease. A 13-year-old boy with WS with mild supravalvular aortic stenosis, ventricular septal disease without requirement for surgical correction, hypertension, and developmental delay was brought to the gastroenterology clinic having experienced intermittent abdominal pain for the previous 2 years. The abdominal pain was crampy, localized to the periumbilical area, and accompanied by nausea, decreased appetite, nonbloody diarrhea, and elevated temperature to 38.58C. He did not report any urinary symptoms. Each episode lasted from a few hours to several days and occurred at least once per month. Before being seen by this group of physicians, the patient had been seen several times in the emergency