J Korean Surg Soc.  2009 Nov;77(5):353-356. 10.4174/jkss.2009.77.5.353.

Peutz-Jeghers Syndrome with Intussusception

• Kim JY
• Moon HG
• Jeong CY
• Ju YT
• Jung EJ
• Lee YJ
• Hong SC
• Choi SK
• Ha WS
• Park ST
• Jeong SH

• KMID: 1750705
• DOI: http://doi.org/10.4174/jkss.2009.77.5.353

Abstract

Peutz-Jeghers syndrome (PJS) is a rare disease of autosomal dominant inheritance, which is characterized by multiple hamartomatous polyps and mucocutaneous pigmentations. Multiple hamartomatous polyps in the gastrointestinal tract are the hallmarks of PJS, and occur most commonly in the small intestine. Complications induced by polyps include colicky abdominal pain, bleeding, bowel obstruction; rectal prolapse of polyps, and intussusceptions. A male patient visited our emergency room with colicky abdominal pain. The patient was diagnosed small intestine intussusceptions with multiple polyps. We report this case with a review of the literature.

Keyword

Peutz-Jeghers syndrome; Intussusceptions

MeSH Terms

Abdominal Pain
Emergencies
Gastrointestinal Tract
Hemorrhage
Humans
Intestine, Small
Intussusception
Male
Peutz-Jeghers Syndrome
Pigmentation
Polyps
Rare Diseases
Rectal Prolapse
Wills

Figure

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  Fig. 1 Dilated small bowel with intussusceptions and polyps on abdominal CT.

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  Fig. 2 Intraoperative photographs show (A) intussusceptions and (B) the leading polyp.

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  Fig. 3 Histologically, polyp consisted of branching bundles of smooth muscle fibers covered by normal mucosa (H&E stain, ×25).

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  Fig. 4 Mucocutaneous pigmentations on hand and foot.

Reference

1. Bruwer A, Bargen JA, Kierland RR. Surface pigmentation and generalized intestinal polyposis; (Peutz-Jeghers syndrome). Proc Staff Meet Mayo Clin. 1954. 29:168–171.

2. Jenne DE, Reimann H, Nezu J, Friedel W, Loff S, Jeschke R, et al. Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet. 1998. 18:38–43.

3. Giardiello FM, Welsh SB, Hamilton SR, Offerhaus GJ, Gittelsohn AM, Booker SV, et al. Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med. 1987. 316:1511–1514.

4. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology. 2000. 119:1447–1453.

5. Giardiello FM, Trimbath JD. Peutz-Jeghers syndrome and management recommendations. Clin Gastroenterol Hepatol. 2006. 4:408–415.

6. De Leng WW, Westerman AM, Weterman MA, De Rooij FW, Dekken Hv H, De Goeij AF, et al. Cyclooxygenase 2 expression and molecular alterations in Peutz-Jeghers hamartomas and carcinomas. Clin Cancer Res. 2003. 9:3065–3072.

7. Edwards DP, Khosraviani K, Stafferton R, Phillips RK. Long-term results of polyp clearance by intraoperative enteroscopy in the Peutz-Jeghers syndrome. Dis Colon Rectum. 2003. 46:48–50.