Severe acquired megacolon in fragile X syndrome.

After discussion with the patient and family, the patient progressed to laparotomy with high anterior resection of the rectosigmoid colon. Computed tomography (CT) of the abdomen and pelvis with intravenous contrast revealed severe faecal loading throughout the entire colon with a markedly dilated rectosigmoid colon measuring 19 cm transversely without a significantly distended caecum, consistent with an acquired megacolon. A 73-year-old male was referred to a regional referral hospital by his general practitioner with abdominal pain and severe constipation on a background of lifelong chronic constipation (CC) and fragile X syndrome (FXS). [Extracted from the article]