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Gardner syndrome

Case contributed by Ahmed Samir
Diagnosis almost certain

Presentation

Anterior abdominal wall swelling after elective total colectomy.

Patient Data

Age: 30 years
Gender: Male
ct

Well defined soft tissue density ( ~ 30 HU) mass lesion measures 4 x 5 x 10 cm, AP X TR X CC dimensions respectively seen within the left rectus sheath, the mass shows mild progressive homogenous post I.V contrast enhancement. The mass compressing the underlying left anterior abdominal wall.

Another mass lesion measures ~ 2.5 cm diameter insinuated between splenic hilum, the tail of pancreas and posterior gastric wall, the mass showing similar density and post-contrast enhancement.

Postoperative changes with a large midline incision, divarication of recti, thickening of the anterior abdominal wall at the midline and multiple small and large bowel loops inseparable from the inner surface of the anterior abdominal wall.

Elliptical shape lesion seen posterior to the anterior abdominal wall at the right iliac fossa measures 14 x 28 mm, showing small dense focus and peripheral post-contrast enhancement.

Left lower posterior chest wall subcutaneous fluid density collection suggestive of a sebaceous cyst.

L1 hemivertebra causing mild kyphosis.

ct

Left ethmoidal air cells small osteoma.

Multiple small sclerotic foci at the maxilla may suggest multiple small osteomas.

Case Discussion

The patient presented with bleeding per rectum, colonoscopy revealed multiple colonic polyps confirmed to be familial adenomatous polyposis ( FAP), the patient underwent elective total colectomy. After about 6 months the patient presented with left anterior abdominal wall swelling and the surgeon sent him for CT to exclude hematoma or seroma.

Abdominal CT showed left anterior abdominal wall mass suggestive of desmoid, the other mass at the splenic hilum suggestive of mesenteric desmoid. A sebaceous cyst also noted at the posterior chest wall.

The history of FAP together with CT findings raise the possibility of Gardner syndrome, the referring physician was contacted and the patient was discussed to proceed for CT paranasal sinuses which showed left ethmoid sinus osteoma supporting the given diagnosis of Gardner syndrome.

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