The finding in this barium enema is seen in a young female. She also has the finding seen in the image below:
These characteristic spots are flat and brown. "I've always had freckles," she says, but you notice these spots are on her lips, around her mouth, and on the buccal mucosa. She also has some on her hands and feet.If you were to do a colonoscopy, you'd find many polyps with variable size and features. Unfortunately, this is an inherited condition and it predisposes the patient to many different cancers of the GI tract, pancreas, liver, lungs, breast, and ovaries.
Challenge: What's this syndrome called?
Related Questions:
1. What is seen on the barium enema film?
Both images shown under fair use.
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Pandora’s Box
This is Peutz-Jeghers syndrome or hereditary intestinal polyposis syndrome. It is autosomal dominant. The main findings are the mucocutaneous lesions of the mouth, hands, and feet and hamartomatous polyps in the GI tract. The gene associated with this disease is STK11/LKB1 on chromosome 19. There is an extremely high risk of associated cancer.
Patients are also predisposed to intussuception of the small intestine where one part of the bowel has prolapsed into another part of the bowel (“telescoping”). This is seen on the radiology image. The image shows the “coiled spring” appearance due to edematous mucosal folds of the returning limb of the intussuception outlined by contrast.
Source: Wikipedia; The Internet Journal of Gastroenterology, “Opening Pandora’s Box: The Role of Contrast Enemas in Abdominal Imaging” by Ramakrishnan and Scheid; Mid-Atlantic Cancer Genetics Network Website; UpToDate.
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