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Multidetector Computed Tomography Findings of Acute Abdominal Intussusception Due to Peutz-Jeghers Syndrome
Hong Duc Pham1,2, Thai Hoa T Nguyen3, Thi Quynh Tran2
1Radiology, Hanoi Medical University, Ha Noi, VNM.
Insights
Peutz-Jeghers syndrome (PJS) can first present as bowel obstruction due to intussusception. This case highlights the diagnostic challenges and the role of MDCT in identifying PJS complications.
Area of Science:
- Gastroenterology
- Medical Genetics
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- Characterized by hamartomatous polyps and mucocutaneous pigmentation.
- Common complications include bleeding and bowel obstruction.
Observation:
- A 17-year-old male presented with symptoms suggestive of PJS.
- Initial diagnosis was delayed despite PJS traits.
- Developed bowel obstruction secondary to ileo-ileal intussusception.
Findings:
- Multidetector computed tomography (MDCT) revealed characteristic intussusception signs ('target' and 'pseudo-kidney').
- MDCT identified a lead-point polyp as the cause.
- Postoperative histopathology confirmed hamartoma, confirming PJS.
Implications:
- Intussusception on MDCT is a critical indicator for PJS diagnosis.
- Early diagnosis of PJS is crucial for managing complications.
- Highlights the importance of considering PJS in young patients with intussusception.
Abstract:
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inheritance characterized by intestinal hamartomatous polyps and hyperpigmented mucocutaneous macules. Bleeding, bowel obstruction, and intussusception are the most common complications in PJS patients. Individuals are infrequently present for the first time with bowel obstruction secondary to intussusception. Intestinal intussusception presentation is often observed clearly on multidetector computed tomography (MDCT) with characteristic findings, such as "target" and "pseudo-kidney" signs, and sometimes shows the cause of lead-point polyp. A complemental examination is needed to attain more diagnostic symptoms of this disorder, including pigmented spots on the oral cavity and lips, family history with multiple gastrointestinal polyps. Here, we report a case of a 17-year-old male who showed traits of Peutz-Jeghers syndrome. However, the diagnosis was not made until he later developed bowel obstruction caused by an ileo-ileal intussusception manifestation on MDCT and eventually proved in typical hamartoma on postoperative histopathology.
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