Melaena with Peutz-Jeghers syndrome: a case report

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.

Seven-Year Follow-Up of Peutz-Jeghers Syndrome

“…Although most of pigmentations of PJS are located around of mouth cheek, nostril, periorbital, ears, and overall orifices of body [ 3 ], these pigmentations of our patient were located intraorally in buccal and labial mucosa. Also Mozaffar et al reported a PJS without mucocutaneous pigmentation [ 6 ].…”

“… A family history of PJS with characteristic mucocutaneous pigmentation. Characteristic mucocutaneous pigmentation with any number of polyps [ 3 ]. …”

Peutz–Jeghers syndrome revealed by recurrent small bowel intussusceptions in children: A case report

“…The most common and concerning manifestation in children and adolescents is the occurrence of small bowel intussusception, which could represent a serious surgical emergency and be life-threatening. 1,2 We report in this paper the case of recurrent intestinal intussusceptions in a child, resulting of hamartomatous Peutz-Jeghers polyps. Our aim was to remind diagnostic and management particularities of this unusual condition and to highlight the importance of regular follow-up for these patients to avoid complications.…”

Cancer problem in Peutz-Jeghers syndrome

“…[1234567] Germline-inactivating mutations in one allele of the STK11/LKB1gene at chromosome 19p13.3 have been found in most Peutz–Jegher's syndrome. [89101112] Genital tract neoplasms in the female patients with PJS include ovarian neoplasms from the epithelium and stromal cells, adenoma malignum of the cervix, and adenocarcinomas of the endometrium.…”