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Double intussusception in a teenage child with Peutz-Jeghers syndrome: A case report
Junloong Chiew1, Sekkapan Thannimalai Sambanthan2, Hans Alexander Mahendran2
1Department of Surgery, Hospital Sultanah Aminah, Johor Bahru 80100, Malaysia. chiewjunloong@gmail.com.
Insights
Peutz-Jeghers syndrome (PJS) patients face a high risk of intussusception, a dangerous intestinal blockage. This case highlights a PJS patient experiencing double intussusception, emphasizing the need for prompt diagnosis and surgical management.
Area of Science:
- Gastroenterology
- Clinical Genetics
- Surgical Oncology
Background:
- Peutz-Jeghers syndrome (PJS) is a hereditary disorder associated with gastrointestinal polyps and mucocutaneous pigmentation.
- PJS patients are at increased risk for complications, including intussusception, a form of intestinal obstruction.
Observation:
- A 16-year-old male with PJS presented with symptoms of abdominal pain, vomiting, and bloody stools.
- Abdominal CT revealed intussusception in the jejunum and rectosigmoid junction.
- Intraoperative findings confirmed jejunal and ileal intussusceptions, necessitating surgical intervention.
Findings:
- The patient underwent successful bowel resection and endoscopic polypectomy with primary anastomosis.
- Diagnostic imaging, including CT and MRI, aids in accurate PJS-related intussusception diagnosis.
- Surgical intervention followed by endoscopic surveillance and polypectomy is the primary treatment strategy.
Implications:
- This case underscores the significant risk of multiple intussusceptions in PJS patients.
- Early and accurate diagnosis through imaging and endoscopic surveillance is crucial for managing PJS complications.
- Proactive surgical and endoscopic management is vital for improving outcomes in Peutz-Jeghers syndrome patients.
Background:
Peutz-Jeghers syndrome (PJS) is a genetic disorder characterized by the development of gastrointestinal hamartomatous polyps and mucocutaneous melanin pigmentation. Patients with PJS are at risk of complications such as intussusception. Intussusception is a condition where one segment of the intestine invaginates into another, causing intestinal obstruction. We report a PJS patient who was diagnosed with double intussusception in a single setting.
Case Summary:
A 16-year-old teenage male PJS patient presented with a history of colicky abdominal pain, vomiting, blood in stools, loss of appetite, and weight loss. On abdominal examination, a vague mass was palpable over the right upper quadrant. Contrast-enhanced computed tomography (CT) of the abdomen was performed and an intussusception involving the jejunum and rectosigmoid junction was observed. The patient subsequently underwent a laparotomy and intussusception involving the jejunum and another over the ileum was noted intra-operatively. Bowel resection and an endoscopic polypectomy were performed, followed by a primary anastomosis. The patient was discharged well and reviewed again one month later, and was noted to be well.
Conclusion:
PJS patients have a high risk of intussusception and can be diagnosed accurately by endoscopic surveillance or radiologically with abdominal CT or magnetic resonance imaging. The mainstay of treatment is surgical intervention followed by endoscopic surveillance with periodic polypectomy.
