1. Gardner's Syndrome
Case Study
Shatha J. Al Mushayt

2. Patient History
Male 32 Y/O
Upper
GI bleeding Anorexia
Outside
pathology
report Weight loss

3. Patient history
• Multiple
polyps all Suggested
over the Treatment:
colon (*FAP) Colon
Removal
Colonoscopy
Outside
* Familial Adenomatosis Polyposis
pathology
report

4. C+ CAP CT
was ordered
@ KFSH

5. CAP CT
Why?
 To confirm FAP.
 To r/o associated tumors (FAP criteria).

6. C+ CAP CT
Many polyps are shown
as filling defects
FAP is confirmed

7. ELSE?
WHAT

8. C+ CAP CT shows:
Multiple soft tissue mesenteric
masses.
Ill-defined,
Infiltrative
Mesentery
& heterogeneous
>> images

9. 1. The largest is in the RT mid abdomen

10. 2. In LT upper abdomen

11. 3. Upper mass along the proximal SMVs

12. 4. in LT lower abdomen, lobulated mass

13. posterior RT abdominal wall
lower posterior LT chest wall
Sheath-like soft tissue enhancement in the
subcutaneous fat.

14. C+ CAP CT
No small bowel obstruction.
Patent SMVs.

15. Mesenteric & subcutaneous masses
Differential diagnosis
Less
possible
Lastly
Likely
Biopsy >>

16. 1. Biopsy of the mesenteric tumors
 Benign fibrous proliferation, suggestive of
fibromatosis
i.e. Desmoid
tumors
Gardner’s syndrome is confirmed.

17. Then..
ProctoColectomy
-ve Pre op
CXR

18. After Proctocolectomy..
Abdominal Nausea
& flank pain & vomiting
Mild distension Abd
x-ray

19. Abdomen X-ray
was ordered
STAT

20. ABDOMEN X-RAY
standing

21. ABDOMEN X-RAY
report Other
doctors
Few mildly dilated Considered
“small” bowel normal(no pathologic
segments with dilatation)
air/fluid levels
An early obstruction cannot be ruled out.
CT

22. C+ CT of Abd. &
pelvis
STAT
Same day
To r/o small bowel obstruction.

23. C+ CT abd. & pelvis
No bowel obstruction or ischemia.
No free air or loculated collections.

24. Progression of the mesenteric mass

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

26. Newly developed soft tissue mesenteric
mass along the LT common iliac vessel.
Desmoids have
metastasized. Chemo

27. Chemotherapy For desmoid tumors
palliative care
CT

28. C+ CAP CT
To assess response after chemotherapy.

29. C+ CAP CT
Result:
 No response to chemotherapy
(desmoids were unchanged in size).

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

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

32. dilatation of duodenum proximal part
paritial obstruction of distal part
Stenting

33. Gastric Stenting
To relieve obstruction
Duodenul stent

34. Stenting 1
1. A guided catheter was advanced to the area of
the stenosis at duodenal/jejunal flexure; Stenting
2

35. Stenting 1
2. After several attempts, they could not cross the
stenotic area. Stenting
2

36. Stenting 1
the procedure was terminated ! Stenting
2

37. 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.

38. Stenting 2
The procedure was abandoned for
an attempt with endoscopic help. gastro
scopy

39. Gastroscopy
after 2 d
Endoscopic crossing of the tumor was
attempted and was unsuccessful. gastro
stomy

40. Gastrostomy & stenting
same day
Crossing of the
Deploying of two overlapping
proximal jejunal
stents
disease

41. After stenting
Abdominal Vomiting
pain
Abd
x-ray

42. Acute series
Abdomen X-ray
STAT
r/o obstruction

43. Negative acute series Abd. X-ray
CT

44. C+ CT OF Abd.
& pelvis
STAT
1 day later
r/o obstruction

45. CT
 Good stenting
 No obstruction but
mild dilatation
proximal to the
stenting.
 Otherwise, no
change from
previous CT.

46. WHAT’S
NEXT?

47. Patient follow up
 Stable
 Well-looking
 For follow up
and palliative care.

48. To be done..
 Gastrostomy tube removal

49. About The Pathology
Outline:
 Familial Adenomatosis Polyposis (FAP)
 Desmoids
 Gardner’s Syndrome

50. Familial Adenomatosis
Polyposis
 An inherited condition caused by a
mutation in a gene.
 Characterized by the formation of
hundreds to thousands of colon
polyps.

51. 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.

52. 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.

53. Comparative Imaging
of FAP
 Colonoscopy
 The diagnostic test of choice
(quantification & histology).
Endoscopic image of sigmoid
colon of patient with FAP.
 Air/contrast Barium Enema
 Detect larger colonic polyps but
can miss smaller ones.
Air/contrast barium enema

54. 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

55. 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.

56. Desmoids imaging
 CT: variable intensity & margin.
 If C+ usually enhanced; but may
not.
 MRI: variable signal intensity on T1 &
T2.
 US: variable echogenesity & margin.

57. Golden Standard modality
for this case
CT:
 for size and extent of desmoids.
 Confirming FAP.
 Colonoscopy.

58. “I’m a great believer in luck, and I find
the harder I work the more I have of it”.
Thomas Jefferson
THANK YOU
Presentation is over !