A 6-year-old boy, known with Potocki-Lupski syndrome (17p11.2 duplication), mild intellectual disability and constipation, presented with episodes of abdominal pain. His defecation pattern was normal with polyethylene glycol. Physical examination showed a hypertympanic distended abdomen. Extreme dilatation and elongation of the colon was seen on abdominal x-ray, corresponding with aerophagia.