CASE 12970 Published on 21.09.2015

Peutz-Jegers Syndrome


Abdominal imaging

Case Type

Clinical Cases


Carpentier K, De Schepper A, Pouillon M, Tavares MDC

GZA Hospitals Sint Augustinus, Radiology Department; Lage Kaart 260 Brasschaat, Belgium;

14 years, female

Area of Interest Abdomen ; Imaging Technique Conventional radiography, CT, Ultrasound
Clinical History
A 14-year-old girl presented at the emergency department with severe abdominal pain. She had no complaints of vomiting, diarrhoea or fever. A blood sample showed no signs of infection. Clinical investigation illustrated an abdominal tenderness without abdominal resistance. Clinical inspection revealed perioral melanosis.
Imaging Findings
An abdominal x-ray, performed in standing and supine position, showed a paucity of air in the abdomen and, more important, a soft tissue density in the left abdomen (Fig. 1). However, there were no radiographic signs of obstruction. Subsequently a CT of the abdomen was performed. Axial and coronal reconstructions revealed an intussusception to be responsible for the soft tissue appearance on conventional radiography (Figs. 2). An apparent lead point could not be discerned. A reduction with contrast was attempted, which was only partially succesfull (Fig. 3). Due to failure of radiological reduction, an open laparotomy was performed. Multiple polyps were seen and resected during surgery. Histopathology concluded these polyps to have characteristics of Peutz-Jeugers disease (Fig. 4).
Peutz-Jeghers syndrome is an autosomal dominant disorder [1, 2], characterized by both mucocutaneous pigmentations and hamartomatous polyps (both gastrointestinal and extra-intestinal) [1-3]. It has no gender or racial predominance [2, 3]. In this syndrome, there is a mutation of the serine/threonine kinase 11 gene [1, 3]. This STK-11 gene is located at chromosome 19p13.3 and normally serves as a protection against tumors as it induces a growth arrest of cells in the G1-phase.

Peutz-Jeghers syndrome is a rare entity. For each patient with the disease, there are ten patients with the more common pathology of Familial Adenomatous Polyposis (FAP).

There are two major complications. As in our patient, an intussusception can occur with a polyp as leadpoint [3]. This situation can either resolve spontaneously or it can lead to small bowel obstruction [4]. Another complication is ulceration of one or more polyps giving rise to acute blood loss or chronic anemia [3]. Furthermore, patients with Peutz-Jeghers syndrome have an increased risk (15-fold!) of developing a malignancy, such as gastrointestinal adenocarcinoma, breast cancer, pancreatic cancer and cancer arising from the reproductive organs [1-3].

In case of intussusception a Bull’s eye (axial plane) or pseudokidney-like appearance (longitudinal plane) are typical findings on ultrasound (Fig. 5). Ultrasound can often distinguish mesenterial fat which accompanies the intussusceptum [3].

On conventional radiography of the abdomen, intussusception can present as [5]:
- Gasless abdomen
- Soft tissue density
- Meniscus sign (luminal crescent of gas, outlining the intussusception)
- Signs of obstruction

The features on CT are affected by [3]:
- Lead point or no lead point
- Bowel wall edema
- Mesenteric fat invagination

Treatment options are different for children and adults. In children, a reduction with contrast can be performed. During this reduction, you should keep in mind the “rule of threes”. This rule states that you have three attempts to perform the reduction, insisting for no longer than three minutes per attempt with the enemabag positioned at three feet in the air. Unsuccessful reductions are often followed by a surgical intervention [5]. In adults, a transient, nonobstructing intussusception can be managed conservatively, while an obstructing intussusception requires surgery [4].

Treatment options for patient with Peutz-Jeghers disease are endoscopic removal of all polyps or, in case of intussusception, a laparotomy with intraoperative enteroscopy. Furthermore, careful surveillance due to the increased risk of malignancy is warranted [1].
Differential Diagnosis List
Intestinal intussusception in a patient with Peutz-Jeghers Syndrome.
Intestinal intussusception due to another cause
Inverted Meckel’s diverticulum
Final Diagnosis
Intestinal intussusception in a patient with Peutz-Jeghers Syndrome.
Case information
DOI: 10.1594/EURORAD/CASE.12970
ISSN: 1563-4086