| In a 7-year-old boy, a small-bowel polyp was found intraoperatively as a lead point of an intussusception. Histologically, a hamartoma was found and the clinical work-up revealed peutz-jeghers syndrome (PJS). Additionally, all four asymptomatic siblings showed intestinal polyposis. All children in a family with PJS should be properly investigated. In case of an intussusception with a polyp in a critical location, a surgical procedure should follow. ( info) |
12/191. The impact of imaging in the management of intussusception owing to pathologic lead points in children. A review of 43 cases. OBJECTIVE: To review the imaging appearances, management and outcome of a large number of children with intussusception owing to pathologic lead points (PLP) in an attempt to define the role of various imaging modalities in this clinical setting. MATERIALS AND methods: review of the records and imaging studies of 43 children with intussusception due to PLP diagnosed between 1986 and 1999. RESULTS: The commonest PLP found were meckel diverticulum, polyps, Henoch-Schonlein purpura and cystic fibrosis. PLP were depicted on sonography in 23 (66%) of 35 patients, on computed tomography in 5 (71%) of 7, on air enema in 3 (11%) of 28, and on barium enema in 6 (40%) of 15. air enema successfully reduced 60% of the intussusceptions. Nine children had recurrent intussusceptions. CONCLUSION: Sonography depicted two-thirds of PLP and provided a specific diagnosis in nearly one-third of our series. Our review does not provide sufficient data on how to continue the investigation of those patients in whom sonography does not depict a PLP but in whom there is a high index of suspicion for its presence. It remains a diagnostic challenge as to how to search for PLP in these patients, and other imaging modalities have to be requested according to each particular case. ( info) |
| We present a rare case of pancreatic adenocarcinoma in a 47-year-old man with the peutz-jeghers syndrome. The patient underwent pancreatoduodenectomy with partial resection of the portal vein. We also review the current literature concerning peutz-jeghers syndrome associated with malignant tumors, especially pancreatic cancer. To our knowledge, this is the first report of a peutz-jeghers syndrome patient with pancreatic cancer having pancreatoduodenectomy and pathologically diagnosed with invasive ductal adenocarcinoma of the pancreas. The Peutz-Jeghers syndrome patients with pancreatic cancer were relatively young. As the pancreatic cancer in these patients was advanced and most were unresectable at diagnosis, the prognoses of these patients were extremely poor. Surgical resection offers the only chance for cure or long-term survival for peutz-jeghers syndrome patients, if the tumor is localized without distant metastasis. Therefore, screening even for young patients with peutz-jeghers syndrome is necessary for early detection of cancer. ( info) |
14/191. Intestinal intussusception in adults, treat it like a cancer. intussusception in adult is a rare condition. Pathologic process is identifiable in 90% of cases. Emergency clinical diagnosis is generally difficult and CT scan typical features are of use. Surgery is always necessary to treat bowel necrosis and to perform pathologic examination. diagnosis of cancer must be in mind and lymphadenectomy must be done. We present two recent cases of intussusception in adults due to adenomatosis polyposis and Meckel's diverticulum. ( info) |
15/191. Duodenal and ampullary obstruction by a Peutz-Jeghers polyp. We report a case of peutz-jeghers syndrome presenting with obstruction of the second part of the duodenum and the ampulla of vater by a large intra-luminal polyp leading to duodenal obstruction and obstructive jaundice. CT scan of the abdomen showed a large polypoidal lesion, a caecal polyp and jejuno-jejunal intussusception. At surgery, two intussusceptions were reduced and leading polyps were excised via two enterotomies; the caecal polyp was excised via caecotomy. The duodenal polyp was excised by limited duodenectomy after frozen section has shown no evidence of malignancy. Histopathological study of all the excised polyps including that of the duodenum showed hamartomatous polyps with no malignant changes. Apart from acute bleeding, this case highlights many of the surgical gastrointestinal complications of peutz-jeghers syndrome. It also highlights the unusual combined duodenal and common bile duct obstruction by a large Peutz-Jeghers polyp. The controversial association of this syndrome with cancer and management options is also discussed. ( info) |
16/191. Combined endoscopic and surgical treatment for multiple polyps of the small intestine in peutz-jeghers syndrome: a case report. Combined endoscopic and surgical treatment in a 14-year-old girl with peutz-jeghers syndrome is reported herein. The patient was diagnosed with peutz-jeghers syndrome because of mucocutaneous pigmentation and hamartomas of the small intestine at 10 years of age, when she underwent an emergency laparotomy for an intussusception of the small intestine. Since this diagnosis, she has undergone follow-up, and barium radiologic and endoscopic studies have shown multiple polyps of various sizes from the stomach throughout the small intestine and to the colon. This time, with the use of combined endoscopic and surgical treatment for polyps of the small intestine, 26 polyps were removed endoscopically by performing only one enterotomy. This combined technique may allow for a longer interval between laparotomies, therefore reducing the complications associated with multiple laparotomies and resections. ( info) |
17/191. Combined endoscopic and surgical treatment for the polyposis of peutz-jeghers syndrome. Repeated laparotomy with extensive small bowel resectioning and eventual short-bowel syndrome is a major problem in peutz-jeghers syndrome (PJS) patients. This problem is caused by gastrointestinal polyposis with intussusception. A combined surgical and endoscopic approach can assess the extent of the polyposis, and small polyps can be removed by snare polypectomy. This can avert multiple enterotomies and decrease bowel resection segments. We applied an intraoperative colonscope via the enterotomy route in an 20-year-old PJS woman, and successfully removed the other 10 polyps distributed in the whole small bowel. As part of an aggressive approach to the management of polyposis in PJS, complete polypectomy can provide a longer symptom-free interval and remove potentially premaligment polyps. ( info) |
18/191. Intestinal intussusception and occlusion caused by small bowel polyps in the peutz-jeghers syndrome. Management by combined intraoperative enteroscopy and resection through minimal enterostomy: case report. The peutz-jeghers syndrome is a hereditary disease that requires frequent endoscopic and surgical intervention, leading to secondary complications such as short bowel syndrome. CASE REPORT: This paper reports on a 15-year-old male patient with a family history of the disease, who underwent surgery for treatment of an intestinal occlusion due to a small intestine intussusception. DISCUSSION: An intra-operative fiberscopic procedure was included for the detection and treatment of numerous polyps distributed along the small intestine. Enterotomy was performed to treat only the larger polyps, therefore limiting the intestinal resection to smaller segments. The postoperative follow-up was uneventful. CONCLUSION: We point out the importance of conservative treatment for patients with this syndrome, especially those who will undergo repeated surgical interventions because of clinical manifestation while they are still young. ( info) |
19/191. Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma. INTRODUCTION: Germline mutations of the STK11/LKB1 tumour suppressor gene (19p13.3) are responsible for peutz-jeghers syndrome (PJS), a rare genetic disorder, which is dominantly inherited. In addition to the typical hamartomatous gastrointestinal polyps and perioral pigmented lesions, PJS is also associated with the development of tumours in various sites. No specific follow up has yet been evaluated for gene carriers. Furthermore, genetic heterogeneity has been reported, which makes genetic counselling difficult. methods: We report here the analysis of the STK11/LKB1 locus in a series of 34 PJS families, combining the search for mutations and rearrangements in the coding sequence, allele specific expression tests, and linkage studies. RESULTS: Germline deleterious mutation of the STK11/LKB1 gene were identified in 70% of cases. The hypothesis of a second PJS locus was reinforced and PJS families could be divided into two groups on the basis of the presence or absence of an identified STK11/LKB1 alteration. Analysis of clinical data indicates that the cancer associated risk is markedly different in the two groups. PJS patients with no identified STK11/LKB1 mutation are at major risk for proximal biliary adenocarcinoma, an infrequent tumour in the general population. CONCLUSION: Up to 30% of PJS patients are caused by mutation in an unidentified gene that confers high susceptibility to cancer development. ( info) |
20/191. A solitary gastric Peutz-Jeghers type polyp: report of a case. Peutz-Jeghers type polyps of the stomach are rare and almost always associated with intestinal polyposis and mucocutaneous pigmentation; a condition known as peutz-jeghers syndrome. The case presented in this report refers to a woman found to have a large solitary Peutz-Jeghers type polyp of the stomach, with a maximal diameter of 7cm. Extended investigation did not reveal intestinal polyposis or any other sign of peutz-jeghers syndrome. Because of the size of the polyp, a partial gastrectomy was performed. To the best of our knowledge, there are only three other reports in the literature of a solitary Peutz-Jeghers type gastric polyp occurring in the absence of peutz-jeghers syndrome. This patient is scheduled to undergo a follow-up examination every 2 years to detect any sign of the development of peutz-jeghers syndrome or malignancies commonly associated with it. ( info) |