Melaena with Peutz-Jeghers syndrome: a case report

Abstract

Introduction: Peutz-Jeghers syndrome (PJS) is a rare familial disorder characterised by mucocutaneous pigmentation, gastrointestinal and extragastrointestinal hamartomatous polyps and an increased risk of malignancy. Peutz-Jeghers polyps in the bowel may result in intussusception. This complication usually manifests with abdominal pain and signs of intestinal obstruction.

Case presentation: We report the case of a 24-year-old Caucasian male who presented with melaena. Pigmentation of the buccal mucosa was noted but he was pain-free and examination of the abdomen was unremarkable. Upper gastrointestinal endoscopy revealed multiple polyps. An urgent abdominal computed tomography (CT) scan revealed multiple small bowel intussusceptions. Laparotomy was undertaken on our patient, reducing the intussusceptions and removing the polyps by enterotomies. Bowel resection was not needed.

Conclusion: Melaena in PJS needs to be urgently investigated through a CT scan even in the absence of abdominal pain and when clinical examination of the abdomen shows normal findings. Although rare, the underlying cause could be intussusception, which if missed could result in grave consequences.

Figure 1

Axial computed tomography (CT) scan images demonstrating intussusceptions at different levels, with intussuscipiens (single black arrow), intussusceptum (thick white arrow) and vessels in the invaginated mesenteric fat (thin white arrow).

Figure 2

Histology image, showing a typical Peutz-Jeghers polyp (H and E staining), demonstrating glandular disorganisation, hamartomatous appearance and ramifying branching bundles of smooth muscle.