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Peutz-Jeghers syndrome revealed by CT finding of acute small bowel intussusception: A case report
Paola Milillo1, Gianluca Prencipe1, Stefano Piscone1
1Department of Medical and Surgical Sciences, Section of Diagnostic Imaging, University of Foggia, Viale Luigi Pinto n. 1, 71122 Foggia, Italy.
Insights
Peutz-Jeghers syndrome (PJS), a rare genetic disorder, can cause intussusception, a serious complication. Early radiologist suspicion via CT scan aided diagnosis in this acute small bowel intussusception case.
Area of Science:
- Gastroenterology
- Medical Imaging
- Genetics
Background:
- Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
- Characterized by gastrointestinal hamartomatous polyps and mucocutaneous pigmentation.
- Intussusception is a known complication, potentially leading to bowel obstruction and ischemia.
Observation:
- A case of acute small bowel intussusception was managed.
- Computed Tomography (CT) scan in the emergency department was crucial for initial PJS suspicion.
- The radiologist's finding prompted further investigation and diagnosis.
Findings:
- The study details the clinical presentation, radiological findings, and surgical management.
- Highlights the role of CT in identifying PJS-related intussusception.
- Emphasizes the importance of early diagnosis for effective management.
Implications:
- Early detection of PJS-related intussusception can prevent severe complications.
- Radiological findings are key in suspecting PJS in emergency settings.
- This case underscores the need for awareness among radiologists and clinicians.
Abstract:
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by multiple gastrointestinal hamartomatous polyps and distinctive mucocutaneous pigmentations. Intussusception is a significant complication associated with Peutz-Jeghers syndrome and it can lead to potential bowel obstruction and ischemia. We present a case report in which PJS was first suspected by a radiologist after performing abdomen Computed Tomography (CT) at the emergency department. We will discuss the clinical presentation, radiological findings and surgical management in a case of acute small bowel intussusception.
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