Abstract
IntroductionPeutz-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 PresentationWe 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.ConclusionMelaena 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.
Highlights
Peutz-Jeghers syndrome (PJS) is a rare familial disorder characterised by mucocutaneous pigmentation, gastrointestinal and extragastrointestinal hamartomatous polyps and an increased risk of malignancy
Melaena in PJS needs to be urgently investigated through a computed tomography (CT) scan even in the absence of abdominal pain and when clinical examination of the abdomen shows normal findings
PJS presents with characteristic flat, pigmented, freckle-like cutaneous lesions mainly on the lower lip, perioral area, buccal mucosa, periorbital area and eyelids
Summary
We conclude that melaena in a case of PJS may indicate an underlying surgical emergency like intussusception, which if missed can result into bowel ischaemia with grave consequences. Though a series of similar cases would be needed to formulate a generalised treatment plan for all such cases in this category, the significance of an urgent abdominal imaging to exclude a surgical pathology is well-reflected in our case report. Consent Written informed consent was obtained from the patient for publication of this case and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal. Click here for file [ http://www.biomedcentral.com/content/supplementary/1752-1947-4-44S2.JPEG ]. Authors’ contributions SB and SM prepared the manuscript and got the consent of the patient. RN, AP, VJ, GM and JRM independently reviewed the manuscript and made corrections. All authors have read and approved the final version of the manuscript. Competing interests The authors declare that they have no competing interests
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