Peutz-Jeghers syndrome with intermittent upper intestinal obstruction: A case report and review of the literature

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.

Figure 1

(A) Pigmentations on the patient's lips. (B) Mass polyps in the duodenum. (C) Multiple completely resected polyps. (D) Histopathological findings revealing hamartomatous characteristics of resected polyps (HE × 40). HE = hematoxylin-eosin.

Figure 2

Pedigree of the family with PJS. Black symbols denote individuals with mucocutaneous pigmentations. Circles and squares indicate females and males, respectively, while the arrow indicates the reported patient and one with the triangle is Nonfamily members. PJS = Peutz–Jeghers syndrome.