Peutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps in association with mucocutaneous pigmentations. Here we present a case of a 30-year-old woman who was hospitalized and underwent diagnostic procedures because of crampy adbdominal pain. Physical examination on admission revealed pigmented spots around lips and on the oral mucosa. Multiple polyps were found in stomach, small and large intestine, with signs of initial ileo-ileal intussusception. After endoscopic removal of achievable polyps, we applied gastroscope through laparotomy and enterotomy and removed total number of 34 polyps from small bowell. The polyps were found to be mostly hamartomatous at histological examination. This procedure can provide removal of the most polyps, which are potentially premalignant, also with less complicationes than after multiple intestinal resectiones

Damir Kraljevic

Dragan Krnic

Kanito Bilan

Marina Maras Simunic

Miroslav Simunic

Nikica Druzijanic

Zdravko Perko

Zenon Pogorelic

English

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Coll. Antropol. 37 (2013) 1: 293–296Case ReportPeutz-Jeghers Syndrome Complicated withIntussusception: Enteroscopic Polyps Resectionsthrough LaparotomyZdravko Perko1, Dragan Krni}1, Zenon Pogoreli}2, Nikica Dru`ijani}1, Miroslav [imuni}3,Kanito Bilan1, Damir Kraljevi}1 and Marina Maras [imuni}41 University of Split, Split University Hospital Center, Department of Surgery, Split, Croatia2 University of Split, Split University Hospital Center, Department of Paediatric Surgery, Split, Croatia3 University of Split, Split University Hospital Center, Department of Internal Medicine, Split, Croatia4 University of Split, Split University Hospital Center, Department of Radiology, Split, CroatiaA B S T R A C TPeutz-Jeghers syndrome is an autosomal dominant inherited disorder characterized by intestinal hamartoma-tous polyps in association with mucocutaneous pigmentations. Here we present a case of a 30-year-old woman whowas hospitalized and underwent diagnostic procedures because of crampy adbdominal pain. Physical examinationon admission revealed pigmented spots around lips and on the oral mucosa. Multiple polyps were found in stomach,small and large intestine, with signs of initial ileo-ileal intussusception. After endoscopic removal of achievablepolyps, we applied gastroscope through laparotomy and enterotomy and removed total number of 34 polyps fromsmall bowell. The polyps were found to be mostly hamartomatous at histological examination. This procedure canprovide removal of the most polyps, which are potentially premalignant, also with less complicationes than aftermultiple intestinal resectiones.Key words: Peutz-Jeghers syndrome, endoscopic polypectomy, intussusceptionIntroductionPeutz-Jeghers syndrome (PJS), also known as heredi-tary intestinal polyposis syndrome, is an autosomal dom-inant genetic disease characterized by the developmentof benign hamartomatous polyps in the gastrointestinaltract, mostly in the small bowel, and hyperpigmentedmacules on the lips and oral mucosa1,2. Characteristicpigmentations are present in 95% of the patients and arecaused by pigment-laden macrophages in the dermis.They are typically flat, blue-gray to brown spots 1–5 mmin size. Peutz-Jeghers syndrome has a prevalence of ap-proximately 1 in 25 000 to 300 000 births3. The mediantime to first presentation with polyps is about 11–13years of age, and approximately 50% will have experi-enced symptoms by the age of 20 years2–4. Genetic testingis suitable for confirmation of PJS. Nowadays, the onlyidentifiable mutations causing PJS affect the STK11(serine/threonine-protein kinase 11 alias LKB1) gene, lo-cated on chromosome 19p13.34. Although the exactmechanism of action of STK11 has not been outlinedcompletely, the function of this protein product is likelyto be important in growth inhibition. Genetic testing forSTK11 mutations is available but they have variable sen-sitivity; in familial cases, 70%, in sporadic cases, from30% to 67%4,5. Although the intestinal lesions are hamar-tomas, patients with PJS have a eight-fold increased riskof developing intestinal cancer compared to that of thegeneral population3,6. These patients are referred for sur-gery to remove these lesions, even if they are asymptom-atic. The hamartomatous polyposis syndromes are char-acterized by an overgrowth of cells native to the area inwhich they normally occur. It is important to note thatthere is an overgrowth of cells or tissues, at least initially,with no presumed neoplastic potential. Hamartomatouspolyps are composed of the normal cellular elements of293Received for publication May 18, 2010the gastrointestinal tract, but have a markedly distortedarchitecture5. Here we report a patient that was treatedby combined endoscopic and surgical procedure.Case ReportA 30-year-old woman was admitted after investiga-tion of gastrointestinal tract that was performed in re-gional hospital due to abdominal pain, ten days ago.Physical examination on admission revealed pigmentedspots around lips and on the oral mucosa. Patient ex-plained that these spots were unique in their family andhad been present since birth. Also anamnestic data sho-wed history of previous surgical treatment due to smallbowel intussusception, 10 years ago. Upper gastrointesti-nal endoscopy revealed large polyp at greater curvatureof the stomach and colonoscopy showed one rectal hyper-plastic polyp, and three polyps at the level of sygmoidalcolon. Histological findings of a specimen of the gastricpolyp were consistent with hyperplastic polyp. Colonspecimens had similar histological findings and weredetermined as tubular adenomas. Abdominal computedtomography revealed ileal intussusception caused bylarge polyp that was detected by previous records andalso multiple intraluminal polyps, (Figures 1 and 2). Pa-tient underwent laparotomy that showed three smallbowel intussusception segments. After manual reduction(Figure 3) of intussuscepted segments, two small entero-tomies were performed on the jejunum and ileum. Polypsnearest to the entertomy were excised using Harmonicscalpel, (Ultracision; Ethicon Endosurgery, Inc., Cincin-nati, Ohio, USA) (Figure 4), other polypectomies wereperformed by snare loop diathermy after introducinggastroscope through enterotomy (Figure 5). A total num-ber of 34 polyps was removed from small intestine andsent to pathohistological examination (Figure 6). Sites ofenterotomies were sutured with polyglactin stitches. TheZ. Perko et al.: Peutz-Jeghers Syndrome Complicated with Intussusception, Coll. Antropol. 37 (2013) 1: 293–296294Fig. 1. Multislice computed tomography of abdomen. Ileal intus-susception in left abdomen caused by large polyp.Fig. 2. Multislice computed tomography of abdomen. Large po-lyp that caused intussusception and two more polypoid intralu-minal structures; one beneath large polyp on left side, another atright upper abdomen in the level of caudal liver margin.Fig. 3. Manual reduction of intussuscepted segments.Fig. 4. Polyps nearest to enterotomy were excised using Harmo-nic scalpel.patient’s postoperative recovery was uneventful and mostpolyps were found to be partly hamartomatous, partlyadenomatous with low-grade epithelium dysplasia.DiscussionPJS is frequently manifested by digestive symptoms.These polyps cause significant clinical problems, especiallyacute and chronic intussusception and chronic blood loss7.Also, polyps in the PJS were considered to be premalig-nant, although it was initially believed for syndrome tohave a relatively benign course8,9 more recent reports de-scribed increased risk for intestinal and extra intestinalcancers10–12. Formerly these patients were managed bycombination of gastroduodenoscopy and colonoscopy withpolypectomy11, and surgery was reserved only for complica-tions such as intussusception and bleeding.In the past, treatment focused on the removal of onlythose polyps causing recurrent intussusceptions, but cur-rent recommendations advocate prophylactic endoscopicremoval of all polyps. Recent guidelines support completecolorectal surveillance with either colonoscopy or flexiblesigmoidoscopy and barium enema at 18 years of age andevery 3 years thereafter5. Upper gastrointestinal surveil-lance by means of endoscopy is recommended every 1–2years from age 25. Others have advocated routine smallbowel surveillance, including small bowel follow throughevery 2 years, with laparotomy and resection reserved forpolyps greater than 1.5 cm in diameter5,13.Some recent studies have demonstrated the chemo-preventive efficacy of rapamycin on PJS in a mousemodel. Rapamycin (sirolimus) is a macrolide compoundwith immunosuppressant properties that is obtained fromStreptomyces hydroscopicus. Rapamycin treatment ledto a dramatic reduction in polyp burden and size14.There are two basic modalities in diagnosis and treat-ment of small bowel hamartomas: intra-operative ente-roscopy (IOE) and double balloon enteroscopy (DBE).IOE is a combination of laparotomy (or laparoscopy) withendoscopy. It allows manipulation to ensure the entiresmall bowel is visualized and nearly all polyps are re-moved in an endoscopic or surgical manner5. There arereports of endoscopic resection of polyps through smallintestine at double-balloon enteroscopy without laparo-tomy12,15. DBE is a new enteroscopy method that allowsexamination and treatment of the jejunum and ileum inalmost all patients. IOE was accepted as the ultimate di-agnostic and/or therapeutic procedure for complete in-vestigation of the mall bowel, especially before the DBEera. The first clinical application of DBE occurred in1999 and was reported 2001 by Yamamoto at al15. DBEwas established into clinical practice in 2003 nd hastaken the place of IOE for most indications15.The entire small intestine is rarely intubated whendouble balloon enteroscopy is performed via the oral orthe anal approach alone. Also with booth approaches stillremains question whether a complete exploration of smallbowel can be achieved with these technique and previoussurgical treatment with possible adhesions can make itimpossible. Ideally, double balloon polypectomy shouldbe performed when polyps are relatively small and with-out signs of intussusception. By combined surgical andendoscopic approach, small intestine can be completelyinspected and also manual reposition of eventual intus-susception can be made easily. The main goal in everycase is to resect as more polyps as possible, without bowelresection.ConclusionIn conclusion, repeated laparotomy with extensivesmall intestine resection can lead to short – bowel syn-drome. The combined endoscopic and surgical approachprovides total removal of gastrointestinal polyps andconsequently a longer symptom-free interval, might pre-clude complications, including intussusception, bleeding,tumorigenesis and short bowel syndrome.Z. Perko et al.: Peutz-Jeghers Syndrome Complicated with Intussusception, Coll. Antropol. 37 (2013) 1: 293–296295Fig. 5. Introducing gastroscope through the enterotomy.Fig. 6. A total number of 34 polyps was removed from the smallintestine and sent to pathohistological examination.R E F E R E N C E S1. PEUTZ JL, Ned Tijdschr Geneeskd, 10 (1921) 134. — 2. JEGHERSH, MCKUSICK VA, KATZ KH, N Engl J Med 241 (1949) 1031. — 3. WA-DA K, ASOH T, IMAMURA T, TANAKA N, YAMAGUCHI K, TANAKAM, J Gastroenterol, 33 (1998) 743. DOI: 10.1007/s005350050166. — 4.ZBUK KM, ENG C, Nat Clin Pract Gastroenterol Hepatol, 4 (2007) 492.DOI: 10.1038/ncpgasthep0902. — 5. KOPACOVA M, TACHECI I, REJ-CHRT S, BURES J, World J Gastroenterol, 15 (2009) 5397. DOI: 10.3748/wjg.15.5397. — 6. UTSUNOMIYA J, GOCHO H, MIYANAGA T, HAMA-GUCHI E, KASHIMURE A, Johns Hopkins Med J, 136 (1975) 71. — 7.LIN BC, LIEN JM, CHEN RJ, FANG JF, WONG YC, Surg Endosc, 14(2000) 1185. DOI: 10.1007/s004640000029. — 8. PERZIN KH, BRIDGEMF, Cancer, 49 (1982) 971. DOI: 10.1002/1097-0142(19820301)49:5<971::AID-CNCR2820490522>3.0.CO;2-1. — 9. SINHA N, CHATTERJEE U,SARKAR S. Can J Surg, 52 (2009) 299. — 10. MULLHAUPT B, BAUER-FEIND P, KURRER MO, FRIED M, Digestive Diseases and sciences, 46(2001) 273. — 11. SEENATH MM, SCOTT MJ, MORRIS AI, ELLIS A,HERSHMAN MJ, J R Soc Med, 96 (2003) 505. DOI: 10.1258/jrsm.96.10.505 — 12. LAKATOS PL, HORVATH HC, ZUBEK L, PAK G, PAK P, FUS-ZEK P, NAGYPAL A, PAPP J, Med Sci Monit, 16 (2010) 22. — 13. WES-TERMAN AM, ENTIUS MM, DE BAAR E, BOOR PP, KOOLE R, VANVELTHUYSEN ML, OFFERHAUS GJ, LINDHOUT D, DE ROOIJ FW,WILSON JH, Lancet, 353 (1999) 1211. DOI: 10.1016/S0140-6736(98)08018-0. — 14. ROBINSON J, LAI C, MARTIN A, NYE E, TOMLINSONI, SILVER A, J Pathol, 219 (2009) 35. DOI: 10.1002/path.2562. — 15. YA-MAMOTO H, SEKINE Y, SATO Y, HIGASHIZAWA T, MIYATA T, IINO S,IDO K, SUGANO K, Gastrointest Endosc, 53 (2001) 216 DOI: 10.1067/mge.2001.112181.Z. Pogoreli}University of Split, Split University Hospital Center, Department of Paediatric Surgery, Spin~i}eva 1, 21000 Split,Croatiae-mail: zenon@vip.hrINVAGINACIJA KAO KOMPLIKACIJA PEUTZ-JEGHERSOVOG SINDROMA: ENTEROSKOPSKARESEKCIJA POLIPA KROZ LAPAROTOMIJUS A @ E T A KPeutz-Jeghersov sindrom je autosomno dominantni nasljedni poreme}aj karakteriziran hamartomima i mukoku-tanim pigmentacijama. Ovdje se opisujemo slu~aj 30-godi{nje `ene koja je hospitalizirana i podvrgnuta dijagnosti~kojobradi zbog gr~evitih bolova u trbuhu. Fizikalnim pregledom pri prijamu uo~ili smo mukokutane pigmentacije okousana i na oralnoj sluznici. Dijagnosti~kom obradom mnogobrojni polipi prona|eni su u `elucu, tankom i debelomcrijevu, sa znakovima po~etne ileo-ilealne invaginacije. Nakon endoskopskog uklanjanja dostupnih polipa, u~inili smoenterotomiju i ukloniti ukupno 34 polipa iz tankog crijeva. Patohistolo{kim pregledom odstranjeni polipi okarakteri-zirani su kao hamartomi. Ovaj postupak omogu}ava uklanjanje ve}eg broja polipa, koji su potencijalno maligni, tako|ers manje komplikacija nego nakon mnogobrojnih crijevnih resekcija.Z. Perko et al.: Peutz-Jeghers Syndrome Complicated with Intussusception, Coll. Antropol. 37 (2013) 1: 293–296296

Peutz-Jeghers Syndrome Complicated with Intussusception: Enteroscopic Polyps Resections through Laparotomy

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Peutz-Jeghers Syndrome Complicated with Intussusception: Enteroscopic Polyps Resections through Laparotomy

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