Ungewöhnliche Komplikationen des Peutz-Jeghers-Syndroms in zwei Generationen derselben Familie

Zusammenfassung

Das Peutz-Jeghers-Syndrom stellt eine seltene, autosomal dominant vererbte Erkrankung dar, die durch eine hamartomatöse Polyposis des Gastrointestinaltraktes und Pigmentierung der Schleimhaut charakterisiert wird. Komplikationen bei diesen Patienten sind relativ selten und abhängig von der Größe und Lokalisation der Polypen. Wir berichten über zwei Komplikationen des Peutz-Jeghers-Syndroms in zwei Generationen derselben Familie. Es handelte sich um eine Dünndarm-Perforation und eine Invagination. Beide Fällen wurden mit einer Dünndarmresektion behandelt.

Summary

The Peutz-Jeghers syndrome is an autosomal dominant inherited disease, characterized by the presence of hamartomatous polyposis of the gastrointestinal tract and perioral mucocutaneous pigmentation. The incidence of surgical complications in these patients is relatively rare, and correlates with the size and location of the polyps. We report on two complications of the Peutz-Jeghers syndrome which occurred in two generations of the same family. There was a perforation and an invagination of the small intestine. Both cases were treated by resection of the small intestine.

Peutz-Jeghers-Syndrom - Komplikationen - Perforation - Invagination

Peutz-Jeghers syndrome - Complications - Perforation - Invagination

Literatur

• 1 Baumgartner G, Neuweiler J, Herzog D. Peutz-Jeghers syndrome: is family screening needed?.  Pediatr Surg Int. 2000;  16 437-439
• 2 Esteller M, Avizienyte E, Corn P G, Lothe R A. et al . Epigenetic inactivation of LKB1 in primary tumors associated with the Peutz-Jeghers syndrome.  Oncogene. 2000;  19 164-168
• 3 Giardiello F M, Brensinger J D, Tersmette A C, Goodman S N. et al . Very high risk of cancer in familial Peutz-Jeghers syndrome.  Gastroenterology. 2000;  119 1447-1453
• 4 Hizawa K, Iida M, Matsumoto T, Kohrogi N. et al . Neoplastic transformation arising in Peutz-Jeghers polyposis.  Dis Colon Rectum. 1993;  36 953-957
• 5 Jiang C Y, Esufali S, Berk T, Gallinger S. et al . STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.  Clin Genet. 1999;  56 136-144
• 6 Kilgus M, Rothlin M A, Largiader F. Intussusception of the small bowel due to Peutz-Jeghers syndrome: a case report.  Hepatogastroenterology. 1998;  45 454-455
• 7 Laughlin E H. Benign and malignant neoplasms in a family with Peutz-Jeghers syndrome: study of three generations.  South Med J. 1999;  84 1205-1209
• 8 Loff S, Wessel L, Wirth H, Manegold B C. et al . Peutz-Jeghers syndrome. Cases at the Mannheim clinic over 25 years.  Langenbecks Arch Chir. 1995;  380 43-52
• 9 Peutz J L. On a very remarkable case of familial polyposis of the mucous membrane of the intestinal tract and nasopharynx accompanied by peculiar pigmentation of the skin and mucous membrane.  Ned Tijdschr Geneeskd. 1921;  10 134-146
• 10 Miyahara M, Saito T, Etoh K, Shimoda K. et al . Appendiceal intussusception due to an appendiceal malignant polyp - an association in a patient with Peutz-Jeghers syndrome: report of a case.  Surg Today. 1995;  25 834-837
• 11 Miyaki M, Iijima T, Hosono K, Ishii R. et al . Somatic mutations of LKB1 and beta-catenin genes in gastrointestinal polyps from patients with Peutz-Jeghers syndrome.  Cancer Res. 2000;  60 631-663
• 12 Naganuma H, Ishida H, Konno K, Komatsuda T. et al . Intussusception in Peutz-Jeghers syndrome: sonographic findings.  Abdom Imaging. 1999;  24 333-335
• 13 Vogel T, Schuhmacher V, Saleh A, Trojan J. et al . Extraintestinal polyps in Peutz-Jeghers syndrome: presentation of four cases and review of the literature.  Int J Colorectal Dis. 2000;  15 118-123
• 14 Wu Y K, Tsai C H, Yang J C, Hwang M H. Gastroduodenal intussusception due to Peutz-Jeghers syndrome. A case report.  Hepatogastroenterology. 1994;  41 134-136
• 15 Yoshikawa A, Kuramoto S, Mimura T, Kobayashi K. et al . Peutz-Jeghers syndrome manifesting complete intussusception of the appendix and associated with a focal cancer of the duodenum and a cystadenocarcinoma of the pancreas: report of a case.  Dis Colon Rectum. 1998;  41 517-521