Hamartomatous Polyposis (Peutz-Jeghers Syndrome)
Michael P. Federle, MD, FACR
R. Brooke Jeffrey, MD
Key Facts
Imaging
Best diagnostic clue
Cluster of small radiolucent filling defects in small bowel
Best imaging tool
Double-contrast barium studies (multiple views)
Top Differential Diagnoses
Familial adenomatous polyposis
Brunner gland hyperplasia (hamartoma)
Lymphoid follicles (hyperplasia)
Metastases and lymphoma (GI tract)
Pathology
Sessile/pedunculated; carpet-like, clustered, or scattered polyps
Clinical Issues
Most common signs/symptoms
Peutz-Jeghers syndrome: Pain, mucocutaneous pigmentation, melena
Lab data: Hypochromic anemia, positive stool guaiac test
Peutz-Jeghers syndrome complications
Intussusception, SBO, cancer risk
Prognosis: 40% risk of cancer by age 40
Treatment
Follow-up and surveillance
Surgery in malignant cases
Diagnostic Checklist
Imaging interpretation pearls
Peutz-Jeghers syndrome: Small bowel polyps, mucocutaneous pigmentation
 (Left) Axial CECT in a 28-year-old man with Peutz-Jeghers syndrome and recent colon resection for metastatic colon cancer, now asymptomatic and presenting for restaging CT, shows the bowel wall and lumen of the intussusceptum  . Note also the bowel wall and lumen of the intussuscipiens  . (Right) Axial CECT in the same patient reveals invaginated mesenteric fat  . In this case, a lead point mass was not seen, and the exact cause of the intussusception is unknown. |
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