Peutz–Jeghers syndrome with intermittent upper intestinal obstruction

Abstract

Rationale:Peutz–Jeghers syndrome (PJS) is an autosomal dominant genetic syndrome characterized by a unique type of gastrointestinal hamartomatous polyp associated with oral and anal mucocutaneous pigmentations. Peutz–Jeghers polyps occur most numerously in the small intestine but frequently in the colon and stomach, only a few cases have been reported in the duodenum.Patient concern:A further family history survey discovered 10 out of 14 members of the family (in 4 generations) had mucocutaneous pigmentations, but many of them were living in rural areas where they had no access to specialized medical services, so none were checked with endoscopy for polyps of hamartoma.Diagnoses:We report the case of a boy patient with mucocutaneous pigmentations over the lips, and a history of recurrent bouts of vomit and anemia over the preceding two years, no abdominal pain and mass. An upper gastrointestinal endoscopy revealed some small polyps in the stomach and multiple sessile polyps in the second part of the duodenum, but colonoscopy exam did not reveal any lesion.Interventions:A double polypectomy and duodenum segmentary resection with end-to-end anastomosis was performed. Histopathology of the resected duodenum polyps indicated it to be a typical hamartomatous polyp.Outcomes:The child was under regular follow-up and recovered well.Lessons:In this case, the patient was characteristic with pigmentations on his lips and intermittent upper intestinal obstruction (due to mass duodenal polyps), there are no definitive guidelines for the treatment to duodenal PJS hamartomatous polyp, each case requires tailor-made management.

The role of double‐balloon enteroscopy in reducing the maximum size of polyps in patients with Peutz‐Jeghers syndrome: 12‐year experience

“…Although hamartomatous polyps can arise within the whole GI tract, small bowel is the most common site . The risks of intussusceptions, GI hemorrhage and small bowel obstruction significantly increase in patients with PJS …”

“…3 The risks of intussusceptions, GI hemorrhage and small bowel obstruction significantly increase in patients with PJS. 4,5 Double-balloon enteroscopy (DBE) has been widely used as a reliable tool for the diagnosis and treatment of polyps. 6 Consequently, a polypectomy using DBE might reduce the occurrence of PJS-related *These authors contributed equally to this work.…”

Peutz-Jeghers Syndrome Presenting as Colonic Intussusception: A Rare Entity

“…There are no definitive consensus guidelines for the management of Peutz-Jeghers polyps, with each case requiring individualized management. In general, if significant bleeding or intussusception occurs, polyp resection is needed [ 11 ]. Colonoscopy should be performed to snare polyps, particularly large, single polyps that are within reach, and enterotomy should be performed to surgically resect short lengths of heavily involved intestinal segments [ 11 ].…”

Oral Diseases Associated with Gastrointestinal Disorders

“…Peutz-Jeghers syndrome is an autosomal dominant genetic syndrome identified by a unique type of gastrointestinal hamartomatous polyp related with anal and oral mucocutaneous pigmentations. Detection of pigmentation on the lips and buccal mucosa can assist with early diagnosis [41]. In the intraoral examination, the lesions usually become visible as flat, brown pigmented painless patches on the tongue, buccal and/or labial mucosa [2].…”