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Published on: March 5, 2018
A case of multiple small bowel intussusceptions revealing a PEUTZ-JEGHERS syndrome
Khaoula Boumeriem1, Kabila Badr1, Moatassim Billah Nabil1
1Central Radiology Department, IBN Sina University Hospital of Rabat, Rabat 10000, Morocco.
Insights
Peutz-Jeghers Syndrome (PJS) can cause serious complications like small bowel intussusceptions. Early diagnosis with imaging and surgical intervention are crucial for managing this rare genetic disorder.
Area of Science:
- Gastroenterology
- Genetics
- Radiology
Background:
- Peutz-Jeghers Syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous pigmentation and hamartomatous polyps.
- PJS significantly increases the risk of gastrointestinal and extra-intestinal malignancies.
Observation:
- A 48-year-old male with known PJS presented with acute right flank abdominal pain.
- CT imaging identified multiple small bowel intussusceptions and hyperdense intraluminal polyps.
Findings:
- The patient underwent exploratory laparotomy for manual reduction of intussusceptions and polyp resection.
- Postoperative recovery was uneventful, and the patient was placed on a surveillance program.
Implications:
- This case underscores the critical role of cross-sectional imaging (CT/MRI enterography) in diagnosing PJS complications in adults.
- Effective long-term management of PJS necessitates routine imaging, polyp surveillance, and cancer screening protocols.
Abstract:
Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant disorder marked by mucocutaneous pigmentation and gastrointestinal hamartomatous polyps, with a predisposition to malignancy. We present a 48-year-old male with known PJS who arrived at the emergency department with right flank abdominal pain. CT imaging revealed multiple small bowel intussusceptions-most notably in the right flank-alongside hyperdense intraluminal polyps. The patient underwent exploratory laparotomy, where manual reduction of the intussusceptions and surgical resection of polyps were performed. Postoperative recovery was uneventful, and he was enrolled in a surveillance program. We present the case of a 48-year-old male with Peutz-Jeghers Syndrome who developed multiple small bowel intussusceptions. This case highlights the importance of cross-sectional imaging, particularly CT and MRI enterography, in diagnosing complications and guiding treatment in adult PJS. Long-term management involves routine imaging, polyp surveillance, and cancer screening.
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