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      A rare case of synchronous colocolic intussusception in association with Peutz–Jeghers syndrome

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          Abstract

          Adult intussusception is rare and is almost always associated with a lead point. Polyposis syndromes are a common cause of adult intussusceptions, with polyps acting as lead points. Peutz–Jeghers syndrome is associated with benign hamartomatous polyps and mucocutaneous pigmentation. Although hamartomatous polyps are not premalignant, there is an increased risk of gastrointestinal and non-gastrointestinal malignancy, most commonly involving the small bowel. Most patients with Peutz–Jeghers syndrome with acute abdomen are diagnosed to have intussusceptions, mostly of the enteroenteric type. Colocolic intussusceptions are rare in Peutz–Jeghers syndrome. To the best of our knowledge, synchronous colocolic intussusception in association with Peutz–Jeghers syndrome has not been previously reported. Here we present a case of malignant jejunal mass and synchronous colocolic intussusceptions in a patient with Peutz–Jeghers syndrome.

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          Most cited references11

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          Peutz-Jeghers syndrome: a systematic review and recommendations for management.

          Peutz-Jeghers syndrome (PJS, MIM175200) is an autosomal dominant condition defined by the development of characteristic polyps throughout the gastrointestinal tract and mucocutaneous pigmentation. The majority of patients that meet the clinical diagnostic criteria have a causative mutation in the STK11 gene, which is located at 19p13.3. The cancer risks in this condition are substantial, particularly for breast and gastrointestinal cancer, although ascertainment and publication bias may have led to overestimates in some publications. Current surveillance protocols are controversial and not evidence-based, due to the relative rarity of the condition. Initially, endoscopies are more likely to be done to detect polyps that may be a risk for future intussusception or obstruction rather than cancers, but surveillance for the various cancers for which these patients are susceptible is an important part of their later management. This review assesses the current literature on the clinical features and management of the condition, genotype-phenotype studies, and suggested guidelines for surveillance and management of individuals with PJS. The proposed guidelines contained in this article have been produced as a consensus statement on behalf of a group of European experts who met in Mallorca in 2007 and who have produced guidelines on the clinical management of Lynch syndrome and familial adenomatous polyposis.
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            Intussusception in adults.

            F Agha (1986)
            A review of 25 adult patients with intussusception is reported. Intussusception in adults constituted 16.6% of 150 intussusception cases observed during 1956-1985. The underlying pathologic processes were identified in 23 patients (92%). Etiologically, adult intussusception could be categorized into four groups: (1) tumor-related (13 cases, 52%); (2) postoperative (nine cases, 36%); (3) miscellaneous--Meckel diverticulum (one case, 4%); and (4) idiopathic (two cases, 8%). The tumor-related intussusceptions were caused by benign tumors in five and malignant tumors in eight patients. Postoperative intussusceptions were related to various factors including suture lines, ostomy closure sites, adhesions, long intestinal tubes, bypassed intestinal segments, submucosal edema, abnormal bowel motility, electrolyte imbalance, and chronic dilatation of the bowel. The sites of involvement of intussusception were jejunogastric (one), jejunojejunal (seven), ileoileal (four), ileocolic (10), and colocolic (three patients). Four patients had synchronous multiple (ileoileal and jejunojejunal), four had compound (ileoilealcolic), and two had recurrent intussusceptions. When an intussusception is encountered in adults, an underlying pathologic process usually can and should be determined for proper management.
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              Peutz-Jeghers syndrome: diagnostic and therapeutic approach.

              Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions. Prevalence of PJS is estimated from 1 in 8300 to 1 in 280,000 individuals. PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors). Bleeding, obstruction and intussusception are common complications in patients with PJS. Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel. Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome. Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients. Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era. Both DBE and IOE facilitate exploration and treatment of the small intestine. DBE is less invasive and more convenient for the patient. Both procedures are generally safe and useful. An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men). Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.
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                Author and article information

                Contributors
                Journal
                BJR Case Rep
                BJR Case Rep
                bjrcr
                BJR Case Reports
                The British Institute of Radiology
                2055-7159
                2017
                25 July 2016
                : 3
                : 1
                : 20150314
                Affiliations
                [1] 1Department of Radiology and Imaging, Tribhuwan University Teaching Hospital , Kathmandu, Nepal
                [2] 2Gastrointestinal Surgery Unit, Department of Surgery, Tribhuwan University Teaching Hospital , Kathmandu, Nepal
                Author notes
                Address correspondence to: Dr Om Biju Panta E-mail: bijupanta@ 123456yahoo.com
                Article
                bjrcr.20150314
                10.1259/bjrcr.20150314
                6159284
                be8527c9-fc24-4c4c-8c60-ce186a9b5d8a
                © 2017 The Authors. Published by the British Institute of Radiology

                This is an open access article under the terms of the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.

                History
                : 17 August 2015
                : 28 June 2016
                Categories
                Case Report
                bjrcr, BJR|case reports
                gas-abd, Gastrointestinal and abdominal
                ct, CT

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