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Peutz Jeghers syndrome with small bowel obstruction

Case contributed by Ian Bickle
Diagnosis certain

Presentation

Middle aged female. Distended abdomen and pain.

Patient Data

Age: 40 years
Gender: Female

The small bowel is dilated to a transition point in the right lower abdomen, in the jejuno-ileal region, due to an enhancing intraluminal lesion with a fleck of calcification.

Similar larger polypoid non-obstructing lesion at the duodeno-jejunal junction. Several smaller polypoid lesions in the jejunum.

Small amount of ascites.

Liver, spleen, pancreas, adrenal glands, and kidneys are unremarkable.

No significant abdominal-pelvic lymphadenopathy.

Report of surgical specimens indicating all to be benign hamartomatous polyps.

Case Discussion

Peutz-Jeghers syndrome is one of the uncommon polyposis syndromes. It predominantly (>95%), but not exclusively, involves the small intestine.

Typically the gastrointestinal tract contains multiple hamartomatous polyps, most commonly involving the small intestine (predominantly the ileum). However, it can also involve the colon and stomach.

Patients are at risk of:

  • small bowel obstruction (as in this case)
  • Intussusception (a polyp acting as a lead point)
  • increased risk of malignancy (both gastrointestinal and extra-gastrointestinal)

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