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

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 sm...

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Bibliographic Details
Published in:Annals of the Royal College of Surgeons of England 2022-03, Vol.104 (3), p.e84-e86
Main Authors: Hudson, V E, Rooney, S, Pursglove, S, Bhojwani, D, Gourgiotis, S
Format: Article
Language:English
Subjects:
Abdomen
Abdominal Pain - etiology
Adult
Cancer
Endoscopy
Family medical history
Gastrointestinal Hemorrhage - etiology
Histology
Humans
Ileal Diseases
Ileocecal Valve - diagnostic imaging
Ileocecal Valve - pathology
Intestinal obstruction
Intestinal Polyps
Intussusception
Ischemia
Jejunal Diseases
Laparotomy
Male
Online Case Report
Pain
Patients
Peutz-Jeghers Syndrome
Polyps
Rectum - diagnostic imaging
Rectum - pathology
Small intestine
Smooth muscle
Surveillance
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Summary: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.
ISSN:0035-8843
1478-7083
DOI:10.1308/rcsann.2021.0142