gardner's syndrome case study
TRANSCRIPT
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