Peutz-Jeghers syndrome

Case contributed by Prashant Mudgal
Diagnosis certain


3 day history of abdominal pain and vomiting.

Patient Data

Age: 30 years
Gender: Female

The pancreas appears bulky and shows an ill-defined hypoechoic mass in the head, measuring approximately 4.7 x 2.4 cm.

There is a solid mass measuring approximately 6.0 x 4.7 cm noted in the right adnexa. The mass shows mild internal vascularity and central echogenicity. The right ovary could not be visualized separately from the lesion.

The ileal wall appears thickened and shows multiple hypoechoic polypoidal growths with luminal compromise.

There is an ileoileal intussusception noted in the distal ileum.


The pancreas appears bulky and shows an ill-defined isodense hypoenhancing mass measuring approximately 4.3 x 2.0 cm. There is extensive polypoidal thickening of upper gastrointestinal tract wall, involving the pylorus of stomach, duodenum, jejunum and proximal ileum. The polyps measure 5 to 30 mm and causing luminal compromise. The proximal small bowel appears distended till distal ileum and there is an ileo-ileal intussusception noted in the distal ileum. The terminal ileum and large bowel appear collapsed.
There are few enlarged non-necrotic lymph nodes noted in the mesentery, the largest lymph node measures 1.3 x 0.8 cm in size. There is a well defined oval mass measuring approximately 6.0 x 4.5 cm noted in the right adnexa. The right ovary could not be separately visualized from the mass. The mass shows post contrast enhancement and central non-enhancing necrotic region within.

Extensive polypoidal mucosal thickening predominantly affecting the upper gastrointestinal tract with pancreatic and ovarian neoplasms are likely to represent gastrointestinal polyposis syndrome most likely Peutz Jeghers Syndrome.

Case Discussion

Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder characterized by intestinal hamartomatous polyps with a distinct pattern of melanin deposition in skin most commonly perioral regions. Patients with PJS are 15-times more prone to develop GI malignancies. PJS patients are at high risk for developing pancreatico-biliary malignancies 1. There is also an association of ovarian neoplasm with PJS, most commonly granulosa cell tumor 2.

The patient had undergone GI endoscopy and biopsy and the diagnosis of PJS was confirmed on the histopathological appearance of a hamartomatous polyp. 

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