Gardner's syndrome, a rare combination in surgical practice

BMJ Case Rep. 2014 May 26:2014:bcr2013008760. doi: 10.1136/bcr-2013-008760.

Abstract

A 45-year-old man presented to the emergency ward with features of intestinal obstruction of 2 days duration. On admission, there was abdominal distension and multiple sessile polyps found on digital rectal examination. In addition, a soft tissue swelling near the elbow and a bony swelling over scalp were noted. Abdominal radiography revealed gaseous distension of the small and large bowel, and ultrasound revealed diffuse, gas-filled bowel with sluggish peristalsis. The obstruction failed to resolve with conservative measures and at emergency laparotomy an irregular hard recto-sigmoid junction mass was identified. A defunctioning transverse loop colostomy was undertaken and the abdomen closed. During recovery, a colonoscopy was performed and a malignant appearing lesion was identified 15 cm proximal to the anal verge. Further per-stomal colonoscopy revealed multiple sessile polyps from the ileo-caecal valve to the descending colon. The cutaneous and abdominal findings were consistent with a rare acute presentation of Gardner's syndrome.

Publication types

  • Case Reports

MeSH terms

  • Colonic Diseases / etiology
  • Colonic Diseases / surgery
  • Colonic Neoplasms / diagnosis*
  • Colonic Neoplasms / etiology
  • Colonic Neoplasms / surgery
  • Colostomy
  • Epidermal Cyst / diagnosis*
  • Epidermal Cyst / etiology
  • Gardner Syndrome / complications
  • Gardner Syndrome / diagnosis*
  • Humans
  • Intestinal Obstruction / etiology
  • Intestinal Obstruction / surgery
  • Male
  • Middle Aged
  • Osteoma / diagnosis*
  • Osteoma / etiology
  • Skull Neoplasms / diagnosis*
  • Skull Neoplasms / etiology