Gardner's syndrome Case Study
Transcript of Gardner's syndrome Case Study
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Gardner's SyndromeCase Study
Shatha J. Al Mushayt
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Patient History
Male 32 Y/O
Upper GI bleeding Anorexia
Weight lossOutside
pathology report
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Patient history
• Multiple polyps all over the colon (*FAP)
Colonoscopy
Outside pathology
report
Suggested Treatment:
Colon Removal
* Familial Adenomatosis Polyposis
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C+ CAP CT was ordered
@ KFSH
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CAP CT Why?
To confirm FAP.
To r/o associated tumors (FAP criteria).
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C+ CAP CT
Many polyps are shown as filling defectsFAP is confirmed
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WHATELSE?
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C+ CAP CT shows: Multiple soft tissue mesenteric masses.
Ill-defined,Infiltrative & heterogeneous
>> images
Mesentery
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1. The largest is in the RT mid abdomen
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2. In LT upper abdomen
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3. Upper mass along the proximal SMVs
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4. in LT lower abdomen, lobulated mass
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Sheath-like soft tissue enhancement in the subcutaneous fat.
posterior RT abdominal wall
lower posterior LT chest wall
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C+ CAP CT
No small bowel obstruction. Patent SMVs.
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Mesenteric & subcutaneous
massesDifferential diagnosis
Likely
Less possible
Lastly
Biopsy >>
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1. Biopsy of the mesenteric
tumors Benign fibrous proliferation, suggestive of fibromatosis
i.e. Desmoi
d tumors
Gardner’s syndrome is confirmed.
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-ve Pre opCXR
ProctoColectomy
Then..
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After Proctocolectomy..
Abd x-ray
Abdominal & flank pain
Nausea & vomiting
Mild distension
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Abdomen X-ray was ordered STAT
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ABDOMEN X-RAY
standing
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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
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C+ CT of Abd. & pelvisSTATSame day
To r/o small bowel obstruction.
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C+ CT abd. & pelvis
No bowel obstruction or ischemia.
No free air or loculated collections.
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Progression of the mesenteric mass
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Increase of the soft tissue encasing the SM vein w/ compression & engorgement of the distal mesenteric veins
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Newly developed soft tissue mesenteric mass along the LT common iliac vessel.
ChemoDesmoids have metastasized.
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Chemotherapy For desmoid tumors
CTpalliative care
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C+ CAP CTTo assess response after
chemotherapy.
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C+ CAP CT
Result: No response to chemotherapy
(desmoids were unchanged in size).
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C+ CAP CT Result cont. a very tiny hypodense nodule seen in the LT thyroid lobe.
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Significant narrowing of the duodenum (due to the very adjacent desmoid tumor)
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dilatation of duodenum proximal part paritial obstruction of distal part
Stenting
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Gastric Stenting
To relieve obstruction
Duodenul stent
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Stenting 1
1. A guided catheter was advanced to the area of the stenosis at duodenal/jejunal flexure; Stenting
2
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Stenting 1
2. After several attempts, they could not cross the stenotic area. Stenting
2
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Stenting 1
Stenting 2
the procedure was terminated !
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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.
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Stenting 2
The procedure was abandoned for an attempt with endoscopic help.
gastroscop
y
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Gastroscopy after 2 d
Endoscopic crossing of the tumor was attempted and was unsuccessful.gastr
ostomy
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Gastrostomy & stentingsame day
Crossing of the proximal jejunal
diseaseDeploying of two overlapping
stents
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After stenting
Abd x-ray
Abdominal pain
Vomiting
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Acute series Abdomen X-ray STAT
r/o obstruction
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Negative acute series Abd. X-ray
CT
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C+ CT OF Abd. & pelvisSTAT1 day later
r/o obstruction
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CT
Good stenting No obstruction but
mild dilatation proximal to the stenting.
Otherwise, no change from previous CT.
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WHAT’SN
EXT?
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Patient follow up
Stable Well-looking For follow up and palliative care.
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To be done..
Gastrostomy tube removal
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About The Pathology
Outline: Familial Adenomatosis Polyposis
(FAP) DesmoidsGardner’s Syndrome
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Familial Adenomatosis Polyposis
An inherited condition caused by a mutation in a gene.
Characterized by the formation of hundreds to thousands of colon polyps.
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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.
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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.
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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
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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
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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.
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Desmoids imaging
CT: variable intensity & margin. If C+ usually enhanced; but may
not. MRI: variable signal intensity on T1
& T2. US: variable echogenesity & margin.
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Golden Standard modalityfor this case
CT: for size and extent of desmoids. Confirming FAP.
Colonoscopy.
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Presentation is over !THANK YOU
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Thomas Jefferson