Gülten İNAN, F. Serdar GÜREL, Ayvaz AYDOĞDU, Ayşe YENİGÜN, Can KARAMAN

PEUTZ-JEGHERS SENDROMU - BİR OLGU SUNUMU

Anahtar Kelimeler:

Peutz-Jeghers sendromu, mukokütanöz pigmentasyon, intestinal polipozis

Peutz-Jeghers Syndrome-A Case Report

Peutz-Jeghers Syndrome (PJS), inherited autosomal dominantly, is a rare syndrome characterised by mucocutaneus pigmentation and gastrointestinal polyps. Patients with PJS are at very high relative and absolute risk for gastrointestinal and nongastrointestinal cancers. Our 6 year old female patient was admitted with melena and also had black pigmented lesions on her oral mucosa. She gave a long history of abdominal cramps and rectal polyps. Our diagnosis was PJS. There were similar lesions on her father's and uncle's oral mucosa, her father had a history of gastrointestinal bleeding, her sister had recurrent abdominal pain and her grandmother's brother had nasopharyngeal and gastric carcinoma. Recent literature holds the LKB1(STK11) gene responsible for PJS. In patients with PJS the risk of malignancy is 18 times more than normal population. For the early diagnosis of cancer, patients with PJS and their families have to be examined frequently. Since PJS is a rare disorder, this case was decided to be presented along with a review of recent literature.

Keywords:

Peutz-Jeghers syndrome, mucocutaneus pigmentation, intestinal polyposis,

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1. Miyaki M. Peutz-Jeghers syndrome. Nippon Rinsho 2000;58:1400-4.
2. McGarrity TJ, Kulin HE, Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol 2000;95:596-604.
3. Ulshen M. Tumors of the digestive tract. In: Behrman RE, Kliegman RM, Jenson HB (eds.) Nelson Textbook of Pediatrics, 16 ed. Philadelphia: W.B. Saunders Company, 2000:1183-4.
4. Lyons Jones K. Smith's recognisable patterns of human malformation. 4 ed. W.B. Saunders Company, 1988:462.
5. Launonen V, Avizienyte E, Loukola A, Laiho P, Salovaara R, Jarvinen H, Mecklin JP, Oku A, Shimane M, Kim HC, Kim JC, Nezu J, Aaltonen LA. No evidence of Peutz-Jeghers syndrome gene LKB1 involvement in left-sided colorectal carcinomas. Cancer Res 2000;60:546-8.
6. Churchman M, Dowling B, Tomlinson IP. Identification of a novel mRNA species of the LKB1/STK11 Peutz-Jeghers serine/threonine kinase. DNA Seq 1999;10:255-61.
7. Hemminki A. The molecular basis and clinical aspects of Peutz-Jeghers syndrome. Cell Mol Life Sci 1999;55:735-50.
8. Gör S. Peutz-Jeghers Sendromu. Çocuk Saðlýðý ve Hast Dergisi 1988;31:129-133.
9. Koppelmann S, Lorcher U, Keller KM, Weitzel D. Peutz-Jeghers syndrome-new possibilities of noninvasive diagnosis. Clin Pediatr 2000;212:332-5.
10. Vogel T, Schumacher V, Saleh A, Trojan J, Moslein G. Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature. Int J Colorectal Dis 2000;15:118-23.
11. Hirao S, Sho M, Kanehiro H, Hisanaga M, Ikeda N, Tsurui H, Nakajima Y, Nakano H. Pancreatic adenocarcinoma in a patient with Peutz-Jeghers syndrome: report of a case and literature review. Hepatogastroenterology 2000;47:1159-61.
12. Petersen VC, Sheehan AL, Bryan RL, Armstrong CP, Shepherd NA. Misplacement of dysplastic epithelium in Peutz-Jeghers Polyps: the ultimate diagnostic pitfall? Am J Surg Pathol 2000;24:34-9.
13. Back W, Loff S, Jenne D, Bleyl U. Immunolocalization of beta catenin in intestinal polyps of Peutz-Jeghers and juvenile polyposis syndromes. J Clin Pathol 1999;52:345-9.
14. Giardiello FM, Brensinger JD, Tersmette AC, Goodman SN, Petersen GM, Booker SV, Cruz-Correa M, Offerhaus JA. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gastroenterology 2000;119:1447-53.
15. McGarrity TJ, Peiffer LP, Billingsley ML. Overexpression of epidermal growth factor receptor in Peutz-Jeghers syndrome. Dig Dis Sci 1999;44:1136- 41.
16. Bergada I, Del Toro K, Katz O, Chemes H, Campo S. Serum inhibin B concentration in a prepubertal boy with gynecomastia and Peutz-Jeghers syndrome. J Pediatr Endocrinol Metab 2000;13:101-3.
17. Newton AP. Peutz-Jeghers syndrome--a case report. JR Nav Med Serv 1998;84:141-4.
18. Naganuma H, Ishida H, Konno K, Komatsuda T, Sato M, Funaoka M, Fujimori S. Intussusception in PeutzJeghers syndrome: sonographic findings. Abdom Imaging 1999;24:333-5.
19. Baumgartner G, Neuweiler J, Herzog D. Peutz-Jeghers syndrome: is family screening needed? Pediatr Surg Int 2000;16:437-9.
20. Westerman AM, Entius MM, de Baar E, Boor PP, Koole R, van Velthuysen ML, Offerhaus GJ, Lindhout D, de Rooij FW, Wilson JH. Peutz-Jeghers syndrome: 78- year follow-up of the original family. Lancet 1999 10;353:1211-5.