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Clinics in diagnostic imaging. 159. Jejunal intussusception due to Peutz-Jeghers syndrome
Vijay Krishnan, Ashish Chawla, Eric Wee
1Department of Diagnostic Radiology, Khoo Teck Puat Hospital, Alexandra Health, 90 Yishun Central, Singapore 768828. Wilfred.peh@gmail.com.
Insights
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing abdominal pain due to intestinal polyps. Early diagnosis through characteristic symptoms like pigmentation and imaging is crucial for managing PJS complications.
Area of Science:
- Gastroenterology
- Medical Genetics
- Radiology
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- It is characterized by hamartomatous polyps, mucocutaneous pigmentation, and increased cancer risk.
Observation:
- A 21-year-old woman presented with acute upper abdominal pain.
- Clinical diagnosis of PJS was supported by perioral pigmentation, jejunojejunal intussusceptions, and small bowel polyps on imaging.
- Histopathology confirmed Peutz-Jeghers polyps.
Findings:
- PJS patients commonly experience recurrent abdominal pain due to intussusception caused by polyps.
- Other clinical manifestations include rectal bleeding and melaena.
- The study highlights key imaging findings for PJS diagnosis.
Implications:
- Early diagnosis of PJS and related bowel polyposis syndromes is vital.
- Awareness of PJS manifestations aids in preventing complications and managing associated risks.
- This case underscores the importance of recognizing PJS for timely intervention.
Abstract:
A 21-year-old woman presented with acute onset of upper abdominal pain. A diagnosis of Peutz-Jeghers syndrome (PJS) was made based on the clinical picture of perioral pigmentation with imaging findings of transient jejunojejunal intussusceptions and small bowel polyps, and confirmed by characteristic histopathological appearances of Peutz-Jeghers polyps. PJS is a rare hereditary condition characterised by unique hamartomatous polyps, perioral mucocutaneous pigmentations, and increased susceptibility to gastrointestinal and extraintestinal neoplasms. Patients usually present with recurrent abdominal pain due to intussusception caused by polyps. Other modes of presentations include rectal bleeding and melaena. We describe the imaging findings of PJS and provide a brief review of bowel polyposis syndromes. The latter are relatively rare disorders characterised by multiple polyps in the large or small intestine, with associated risk of malignancies and other extraintestinal manifestations. Awareness of the manifestations and early diagnosis of these syndromes is crucial to prevent further complications.
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