gardner's syndrome case study

Gardner's SyndromeCase Study

Shatha J. Al Mushayt

Patient History

Male 32 Y/O

Upper GI bleeding Anorexia

Weight lossOutside

pathology report

Patient history

• Multiple polyps all over the colon (*FAP)

Colonoscopy

Outside pathology

report

Suggested Treatment:

Colon Removal

* Familial Adenomatosis Polyposis

C+ CAP CT was ordered

@ KFSH

CAP CT Why?

To confirm FAP.

To r/o associated tumors (FAP criteria).

C+ CAP CT

Many polyps are shown as filling defectsFAP is confirmed

WHATELSE?

C+ CAP CT shows: Multiple soft tissue mesenteric masses.

Ill-defined,Infiltrative & heterogeneous

>> images

Mesentery

1. The largest is in the RT mid abdomen

2. In LT upper abdomen

3. Upper mass along the proximal SMVs

4. in LT lower abdomen, lobulated mass

Sheath-like soft tissue enhancement in the subcutaneous fat.

posterior RT abdominal wall

lower posterior LT chest wall

C+ CAP CT

No small bowel obstruction. Patent SMVs.

Mesenteric & subcutaneous

massesDifferential diagnosis

Likely

Less possible

Lastly

Biopsy >>

1. Biopsy of the mesenteric

tumors Benign fibrous proliferation, suggestive of fibromatosis

i.e. Desmoi

d tumors

Gardner’s syndrome is confirmed.

-ve Pre opCXR

ProctoColectomy

Then..

After Proctocolectomy..

Abd x-ray

Abdominal & flank pain

Nausea & vomiting

Mild distension

Abdomen X-ray was ordered STAT

ABDOMEN X-RAY

standing

ABDOMEN X-RAY

Few mildly dilated “small” bowel segments with air/fluid levels

report Other doctors

Considered normal(no pathologic dilatation)

An early obstruction cannot be ruled out.CT

C+ CT of Abd. & pelvisSTATSame day

To r/o small bowel obstruction.

C+ CT abd. & pelvis

No bowel obstruction or ischemia.

No free air or loculated collections.

Progression of the mesenteric mass

Increase of the soft tissue encasing the SM vein w/ compression & engorgement of the distal mesenteric veins

Newly developed soft tissue mesenteric mass along the LT common iliac vessel.

ChemoDesmoids have metastasized.

Chemotherapy For desmoid tumors

CTpalliative care

C+ CAP CTTo assess response after

chemotherapy.

C+ CAP CT

Result: No response to chemotherapy

(desmoids were unchanged in size).

C+ CAP CT Result cont. a very tiny hypodense nodule seen in the LT thyroid lobe.

Significant narrowing of the duodenum (due to the very adjacent desmoid tumor)

dilatation of duodenum proximal part paritial obstruction of distal part

Stenting

Gastric Stenting

To relieve obstruction

Duodenul stent

Stenting 1

1. A guided catheter was advanced to the area of the stenosis at duodenal/jejunal flexure; Stenting

2

Stenting 1

2. After several attempts, they could not cross the stenotic area. Stenting

2

Stenting 1

Stenting 2

the procedure was terminated !

Stenting 2 after14 d

1. Injection of contrast revealed very tight stricture in the proximal jejunum.

2. the catheter stopped due to recoil in the stomach and could not cross into the jejunum.

Stenting 2

The procedure was abandoned for an attempt with endoscopic help.

gastroscop

y

Gastroscopy after 2 d

Endoscopic crossing of the tumor was attempted and was unsuccessful.gastr

ostomy

Gastrostomy & stentingsame day

Crossing of the proximal jejunal

diseaseDeploying of two overlapping

stents

After stenting

Abd x-ray

Abdominal pain

Vomiting

Acute series Abdomen X-ray STAT

r/o obstruction

Negative acute series Abd. X-ray

CT

C+ CT OF Abd. & pelvisSTAT1 day later

r/o obstruction

CT

Good stenting No obstruction but

mild dilatation proximal to the stenting.

Otherwise, no change from previous CT.

WHAT’SN

EXT?

Patient follow up

Stable Well-looking For follow up and palliative care.

To be done..

Gastrostomy tube removal

About The Pathology

Outline: Familial Adenomatosis Polyposis

(FAP) DesmoidsGardner’s Syndrome

Familial Adenomatosis Polyposis

An inherited condition caused by a mutation in a gene.

Characterized by the formation of hundreds to thousands of colon polyps.

Desmoids Tendonlike tumors of the connective

tissues Associated with FAP in 5-10 % Benign, rarely metastasize; but can be locally aggressive &

invasive to surrounding tissues difficult to be cut out.

Gardner's syndrome

A subtype of FAP. Characterized by: Multiple colon

polyps + tumors outside the colon. The extracolonic tumors may

include: • Desmoid tumors• Bone & soft tissue tumors.

Comparative Imaging of FAP

Colonoscopy The diagnostic test of choice (quantification & histology).

Air/contrast Barium Enema Detect larger colonic polyps but can miss smaller ones.

Endoscopic image of sigmoid colon of patient with

FAP.

Air/contrast barium enema

Comparative Imaging of FAP

Virtual colonoscopy (by CT or MRI) Detect >80% of large polyps; Is beginning to be done for screening

outside research settings.

CT

Desmoids imaging

No specific imaging features to distinguish desmoids from other masses. ( Biopsy is always needed).

CT & MRI are the most useful modalities for size & extent.

US: initially for superficial tumors involving the abdominal wall.

Desmoids imaging

CT: variable intensity & margin. If C+ usually enhanced; but may

not. MRI: variable signal intensity on T1

& T2. US: variable echogenesity & margin.

Golden Standard modalityfor this case

CT: for size and extent of desmoids. Confirming FAP.

Colonoscopy.

Presentation is over !THANK YOU

“I’m a great believer in luck, and I find the harder I work the more I have of it”.

Thomas Jefferson