Introduction

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterised by gastrointestinal (GI) hamartomatous polyps and distinctive mucocutaneous pigmented spots, due to mutation of the STK11/LKB1 gene located on chromosome 19p. Approximately half of the cases are inherited, while the remaining are sporadic as a result of spontaneous mutation [1], [2].

Chronic anemia, intestinal occlusion by intussusception, and sporadic abdominal pain are symptoms of digestive hamartomatous polyps. The diagnosis is evoked by radiological imaging showing intussusception of the polyps. However, only a pathological examination can offer a definitive diagnosis [3].

We hereby report an uncommon case of a man experiencing intestinal intussusception due to Peutz-Jeghers syndrome, this case underscores the importance of including this syndrome in the differential diagnosis of intestinal obstructions, particularly those that are challenging to diagnose clinically, and contributes to laying the groundwork for future research on genetic predispositions, familial implications, and advances in diagnostic techniques. This case report aims to present a clinical case of intestinal intussusception in a patient with Peutz-Jeghers Syndrome (PJS), emphasising the diagnostic process, surgical management, and clinical outcome. Through this case, we aim to underscore the significance of prompt recognition of gastrointestinal complications in PJS and to contribute to the existing literature by highlighting key considerations in the acute management of intussusception in this patient population.

Case Presentation

This is the case of a 32-year-old patient who underwent surgery for appendicular peritonitis in 2003 via a midline laparotomy. He has been followed for Peutz-Jeghers syndrome since 2011, diagnosed based on the presence of oral pigmentation and hamartomatous polyps located at the antro-pyloric junction, the terminal ileum, the cecal fundus, and the ascending colon. One month before admission, the patient experienced generalised abdominal pain associated with moderate rectal bleeding, rectal syndrome, and a spontaneously resolving subocclusive syndrome.

Additionally, an ileo-ileal intussusception was found, secondary to an intraluminal mass located 15 cm from terminal ileum. The patient underwent a segmental small bowel resection including jejunal mass located 1.80 meters from duodenojejunal flexure, followed by a primary end-to-end jejunojejunal anastomosis. A second segmental small bowel resection was performed to remove ileo-ileal intussusception caused by an intraluminal mass located 15 cm from the terminal ileum, also followed by a primary end-to-end anastomosis.

Figure 3: Interoperative image of the substenotic jejunal mass.

Figure 4: Image illustrating the specimen of the resected jejunal mass.

Figure 5: Image illustrating the specimen of the intussusception.

• The presence of any number of Peutz-Jeghers polyps in a person with the characteristic mucocutaneous pigmentation associated with PJS [2]

The cutaneous-mucosal pigmentation in SPJ results from an excess accumulation of melanin. These darkened areas are situated on the fingers, lips, perioral region, and in the vicinity of the genital area [7].

The hallmark of PJS is the presence of hamartomatous polyps, which are typically benign but can cause significant clinical issues, including intestinal obstruction, intussusception, bleeding, and pain. These polyps are often large and numerous, sometimes requiring surgical intervention due to complications, as mentioned. Small bowel polyps, particularly in the jejunum and ileum, are more likely to cause intussusception severe enough to warrant emergency surgery.

Patients with PJS often have a history of abdominal discomfort, bloody stools, and anemia due to intermittent or less overt gastrointestinal bleeding. Polyps in the small intestine can be difficult to detect on routine imaging, complicating diagnosis without appropriate surveillance. Upper gastrointestinal symptoms, such as vomiting or recurrent abdominal pain, may indicate gastric polyps or obstructive lesions [8].

Digestive polyps, found in the jejunum-ileum in 90 % of cases, colon in 9%, or stomach in 1 %, are hamartomas. Among these polyps, 16 % exhibit an adenomatous element, frequently located in the duodenum or jejunum. Importantly, there is no association between the size of the polyps and the occurrence of neoplasia [9].

The syndrome manifests similarly in all racial groups and equally in males and females [5]. In half of the cases, small bowel obstruction is the primary presenting symptom, and relaparotomy due to complications caused by polyps is common, often occurring at short intervals [10]. Apart from polyposis, prior research has documented a higher incidence of gastrointestinal and non-gastrointestinal malignancies among PJS patients compared to the general population [11].

Studies reporting the development of malignancies in hamartomatous polyps support the hamartoma-adenoma-carcinoma sequence hypothesis.

While this method is advantageous in elective settings, its applicability in emergency scenarios is limited [16]. Prophylactic colectomy is generally not recommended unless significant polyps or intestinal malignancies develop. Large polyps can be removed by staged enterotomies, sometimes with the help of an intraoperative enteroscopy with removal of polyps [17].

In addition, there is no agreement on the recommended monitoring frequency for patients with Peutz-Jeghers syndrome, but in the context of asymptomatic patients, it is recommended that regular clinical and laboratory assessments be conducted, along with annual abdominal ultrasound, including pancreatic evaluation, as well as pelvic or testicular ultrasound. Upper gastrointestinal endoscopy, video capsule endoscopy, and colonoscopy are recommended between the ages of 8 and 10 to screen for gastric, duodenal, and small bowel polyps. If polyps are detected on baseline screening, endoscopic evaluation should be repeated every 2 to 3 years. If polyps are absent, screening should resume every 2 to 3 years [18]. Gynecological monitoring is also recommended, including mammography every 5 years up to age 35, then every 2 years from age 50 onwards [9].

Conclusion

PJS is a genetic disorder characterised by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation. This condition increases the risk of both gastrointestinal and extraintestinal cancers. Early diagnosis through screening is crucial, especially for individuals with a family history of PJS or related cancers. While no medical treatments can halt disease progression, management focuses on regular cancer screenings, endoscopic surveillance, and surgical intervention, such as polypectomy or bowel resection, when necessary.

Consent: As per international standard or university standard, the patient(s) written consent has been collected and preserved by the author(s).

Ethical Approval: As per international standard or university standard, written ethical approval has been collected and preserved by the author(s).

Conflicts of Interest: Authors have declared that no competing interests exist.

Source of Funding: None