Skip to main page content
U.S. flag

An official website of the United States government

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Mar;104(3):e84-e86.
doi: 10.1308/rcsann.2021.0142. Epub 2021 Dec 20.

Small bowel intussusception and concurrent jejunal polyp with neoplastic transformation: a new diagnosis of Peutz-Jeghers syndrome

V E Hudson  1 , S Rooney  1 , S Pursglove  1 , D Bhojwani  1 , S Gourgiotis  1
Affiliations
Case Reports

Small bowel intussusception and concurrent jejunal polyp with neoplastic transformation: a new diagnosis of Peutz-Jeghers syndrome

V E Hudson et al. Ann R Coll Surg Engl. 2022 Mar.

Abstract

Peutz-Jeghers syndrome (PJS) is a rare hereditary disease characterised by hyperpigmentation of the oral mucosa and gastrointestinal hamartomatous polyps. We report a case of a 27-year-old man who presented with a 5-day history of epigastric pain and rectal bleeding. Computed tomography suggested small bowel obstruction secondary to ileocolic intussusception and an incidental polyp in the mid jejunum. The patient underwent exploratory laparotomy during which right hemicolectomy and small bowel resection were performed. Histology from surgical specimens revealed Peutz-Jeghers polyps, one of which had low-grade dysplasia. This case emphasises that although rare, adults with PJS can present with intussusception. Also illustrated is the extremely rare possibility of concurrent polyps occurring in different parts of the bowel with neoplastic transformation. Intussusception is a challenge to diagnose because the presentation is often non-specific. Clinical history-taking and physical examination along with prompt axial imaging is important for the diagnosis. Careful examination of the bowel and polypectomy during laparotomy may prevent neoplastic transformation and short bowel syndrome.

Keywords: Abdominal pain; Dysplasia; Intussusception; Neoplasm; Per rectum bleeding; Peutz–Jeghers; Polyp.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Axial imaging showing the characteristic ‘target sign’ in intussusception, a soft-tissue mass, concentric alternating echogenic and hypoechogenic bands
Figure 2
Figure 2
Axial imaging showing the incidental 20mm jejunal polyp
Figure 3
Figure 3
Ileal hamartomas polyp. Histology of Peutz–Jeghers hamartomas polyp showing typical branching smooth muscle within the polyp core
Figure 4
Figure 4
Jejunal hamartomas polyp with low-grade dysplasia. Histopathology of the jejunal hamartomas polyp showing low-grade dysplasia at the surface of the polyp
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Wagner A, Aretz S, Auranen Aet al. . The management of Peutz–Jeghers syndrome: European hereditary tumour group (EHTG) guideline. J Clin Med 2021; 10: 473.10.3390/jcm10030473 - DOI - PMC - PubMed
    1. Chen HY, Jin XW, Li BRet al. . Cancer risk in patients with Peutz-Jeghers syndrome: A retrospective cohort study of 336 cases. Tumour Biol 2017; 39.10.1177/1010428317705131 - DOI - PubMed
    1. Latchford A, Cohen S, Auth Met al. . Management of Peutz-Jeghers syndrome in children and adolescents: A position paper from the ESPGHAN polyposis working group. J Pediatr Gastroenterol Nutr 2019; 68: 442–452.10.1097/MPG.0000000000002248 - DOI - PubMed
    1. van Lier MG, Mathus-Vliegen EM, Wagner Aet al. . High cumulative risk of intussusception in patients with Peutz-Jeghers syndrome: time to update surveillance guidelines? Am J Gastroenterol 2011; 106: 940–945.10.1038/ajg.2010.473 - DOI - PubMed
    1. Wang T, Luo T, Liu WQet al. . Clinical presentations and surgical approach of acute intussusception caused by Peutz-Jeghers syndrome in adults. J Gastrointest Surg 2011; 15: 2218–2225.10.1007/s11605-011-1724-2 - DOI - PubMed

Publication types