A 10-year-old girl presents with acute abdominal pain.
Clinical examination reveals freckles on her face and upper lip.
Peutz-Jeghers Syndrome with Jejuno-Jejunal Intussusception
A 10-year-old girl presents with acute abdominal pain.
Clinical examination reveals freckles on her face and upper lip, freckles in her buccal mucosa, and on her fingertips, consistent with Peutz-Jeghers syndrome.
Small bowel follow-through reveals multiple filling defects within a dilated jejunum in the left upper quadrant, consistent with small bowel polyps. The findings are characteristic of Peutz-Jeghers syndrome, . Ashley Davidoff MD (00513) (001SB).
UGI and small bowel follow through was performed. Which of the following is the MOST likely diagnosis?
A. Internal hernia with obstruction
B. A large mass with partial small bowel obstruction
C. Intussusception
D.Internal hernia without obstruction
1. Findings
Peutz-Jeghers Syndrome with Jejuno-Jejunal Intussusception
A 10-year-old girl presents with acute abdominal pain.
Clinical examination reveals freckles on her face and upper lip, freckles in her buccal mucosa, and on her fingertips, consistent with Peutz-Jeghers syndrome.
Small bowel follow-through reveals multiple filling defects within a dilated jejunum in the left upper quadrant, consistent with small bowel polyps. The findings are characteristic of Peutz-Jeghers syndrome, . Ashley Davidoff MD (00513) (001SB).
Answer is C
The SBFT shows
Intussusception Multiple Polyps
The upper GI and SBFT shows multiple nodular filling defects consistent with polyps (green asterisks,( b) . The polypod filling defects are located within the intussusceptum (red arrowheads, c) with noted lead point (larger red arrowhead c) . The proximal portion of the intussuscipiens (pink arrowheads) is noted in d
The upstream small bowel is minimally dilated but no evidence of total obstruction
Ashley Davidoff MD TheCommonVein.com 00513cL02.1k
A Second Spot Image Shows the
“Stack of Coins” Sign
Spot film of the small bowel follow through shows the intussusceptum (red arrowheads) within the intussuscipiens (pink arrowheads and a stack of coins sign (orange arrowheads) consisting of series of thickened, parallel mucosal folds resembling a stack of coins.
Ashley Davidoff MD The CommonVein.com 00514.2L04b
Intusussception is more commonly diagnosed by CT scan
21 year old male with abdominal pain. CT of the abdomen shows a small bowel intussusception consisting of the intussuscipiens containing contrast (small pink arrowheads, b), and its thickened wall that has been inverted (large pink arrowhead) . The intussusceptum consists of mesenteric fat (yellow arrow head and the collapsed lumen (red asterisk in b) .
Ashley Davidoff TheCommonVein.com 19899cL01
Why the Other Options Are Incorrect:
-
A) Internal hernia with obstruction
→ Internal hernias may cause obstruction but typically present with proximal dilation, air-fluid levels, and clustered bowel loops — none of which are present here. The bowel-within-bowel pattern and polyps strongly point to intussusception due to PJS, not a hernia. -
B) A large mass with partial small bowel obstruction
→ There is no single large mass. Instead, there are multiple small polypoid filling defects, characteristic of PJS. The cause of the obstruction is an intussusception, not an extrinsic or intrinsic large tumor. -
D) Internal hernia without obstruction
→ This would not explain the intussusception appearance or the clinical symptoms. Also, internal hernias without obstruction are often asymptomatic and do not show a polyp-related lead point or bowel-within-bowel configuration.
Peutz-Jeghers Syndrome (PJS)
Peutz-Jeghers syndrome is a rare, inherited disorder characterized by the development of hamartomatous polyps throughout the gastrointestinal tract and distinctive mucocutaneous pigmentation, often appearing as dark blue to brown spots on the lips, mouth, fingers, and toes.
It follows an autosomal dominant inheritance pattern and is caused by mutations in the STK11/LKB1 gene.
Patients with PJS are at increased risk for various cancers, including those of the pancreas, breast, colon, stomach, and reproductive organs.
In this small bowel follow-through study, we observe multiple small, well-defined filling defects within the small intestine. These are classic for hamartomatous polyps, which in the right clinical and phenotypic setting strongly suggest Peutz-Jeghers syndrome (PJS).
Notably, one of these polyps appears to act as the lead point of a small bowel intussusception. The intussusception is non-obstructive, as evidenced by continued contrast flow through the involved segment, with no significant upstream dilatation or air-fluid levels.
The imaging study presented in this case — a small bowel follow-through — was performed many years ago, at a time when ultrasound was not yet routinely employed in the evaluation of pediatric intussusception. While this fluoroscopic technique has largely been supplanted by ultrasound in current practice, it still provides a striking graphic insight into the structural dynamics of intussusception — particularly the relationship between the intussusceptum (the prolapsing segment) and the intussuscipiens (the receiving segment). The ability to visualize the polyps acting as lead points within the advancing loop offers valuable anatomic context that complements the modern ultrasound-based approach.
Today, however, ultrasound remains the first-line imaging modality, favored for its high diagnostic accuracy, real-time evaluation, and absence of radiation.
A not correct
Internal hernia with obstruction was considered, but the imaging features are not supportive. There is no significant upstream bowel dilation, and both the proximal small bowel and stomach appear normal in caliber, arguing against high-grade obstruction. While the configuration of a mildly dilated loop could potentially mimic the appearance of an internal hernia, the presence of multiple polyps, a clearly defined leading edge, and the classic “bowel-within-bowel” appearance are much more characteristic of an intussusception, making internal hernia an unlikely diagnosis in this context.