A Case of Recurrent Multiple Jejunal and Ileal Intussusceptions in Peutz-Jeghers Syndrome: A Radio-Pathologic Correlation

A 17-year-old male with a family history of Familial Adenomatous Polyposis and Peutz-Jeghers Syndrome presented as recurrent history of abdominal pain, non-projectile vomiting, and melena. Physical findings include pallor, hyperpigmentation of the lips, buccal mucosa, and digits including the nails, and a tender palpable left abdominal mass (Figure 1a-d).

A contrast-enhanced whole abdominal CT scan revealed multiple polyps within the stomach, small, and large intestines. Multiple fluid-filled jejunal and ileal segments exhibiting “target sign” appearances were demonstrated suggestive of intussusceptions (Fig. 2a-c). Similar findings were noted in a non-contrast whole abdominal CT scan five years prior during the first symptom attack (Fig. 3a-c).

Surveillance of pathologies associated with Peutz-Jeghers syndrome was done. Upper gastrointestinal with follow-through small intestinal series revealed multiple sessile and pedunculated polyps in the gastrointestinal tract and an area of narrowing of the jejunal segments (Figure4a-d). Whole abdominal ultrasound revealed multiple polyps seen in the gastrointestinal tract, some with colour flow within the pedicles (Figure5a-d). Scrotal ultrasound showed non-specific microlithiases (Fig. 6a-c). Colonoscopy and esophagoduodenoscopy, with polypectomy, were done. The polyps were light to dark brown, bosselated and rubbery (0.3 to 1.3 centimetres in diameter) (Fig. 7a-c). Histologically, the polyps show arborizing branching smooth muscle bundles consistent with Peutz-Jeghers Syndrome (Fig. 8a-b).

Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation [1,2]. The diagnostic feature of the polyp is its central layer of smooth muscle (arborizing pattern) covered with the native mucosa [3]. These polyps predispose patients to a spectrum of intestinal and extra-intestinal complications like carcinomas, and intussusceptions [3]. The cumulative risk for all cancer in PJS patients age fifteen to sixty-four years old is 93% [4]. STK11/ LKB1(serine-threonine kinase 11 genes at 19p13.3) gene mutations have been implicated in the development of PJS [3,5].

Intussusception is the leading cause of bowel obstruction in infants with a peak incidence from five to ten months old. An intestinal segment telescopes into another in a patient presenting with abdominal pain, currant jelly stools, and palpable sausage mass [6,7].  Intussusception can be categorized depending on the bowel involved, number of segments, recurrence, and manner of telescoping. In this case, the recurrence of multiplicity makes it extremely rare. Prompt diagnosis for immediate conservative or surgical management is a must to prevent necrosis of the involved intestine.

 Barium studies show polyps and “coiled-spring” appearance. MRI or CT and ultrasound demonstrate the concentric ring configuration of the folded intestine as “target” sign or “pseudokidney” sign, respectively [7]. Doppler may show the polyp’s vascular pedicle. Scrotal ultrasound may reveal testicular neoplasm, particularly Sertoli cell tumor, seen as a solitary hypoechoic lesion, large calcifying mass, or multiple calcifications. The medical team tried to provide the best diagnostic, and surveillance tools for the patient considering the family’s financial situation. CT provided the necessary data for emergency diagnosis and management with its high spatial resolution, and fast acquisition. MRI could have provided excellent soft-tissue contrast, however, is expensive, and time-consuming. CT and MR enterography were not considered for surgical preparation purposes. Small bowel follow-through was done because it is widely available and provides low-cost real-time images of intussusceptions, and polyps however, presents difficult extramural data collection. Ultrasound provided an inexpensive good tumour surveillance imaging without the threat of radiation [8].

Our patient was put under observation, and supportive management until symptoms subsided. Surgical reduction was done in the prior admission.

Intussusception in PJS patients presenting with acute abdomen should always be considered. Age-specific surveillance imaging and biopsy are imperative to rule out the possibility of malignancy [9]. Patients should be enrolled in a specific syndrome registry for documentation, monitoring, and genetic counselling.

Written informed patient consent for publication has been obtained.