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Unusual manifestations of Peutz-Jegher's syndrome in children
Sravanthi Vutukuru1, Shailesh Solanki1, Prema Menon1
1Department of Pediatric Surgery, PGIMER, Chandigarh, India.
Insights
Peutz-Jeghers syndrome (PJS) in children often presents with intussusception. This report details two rare PJS cases with unusual presentations: retrograde intussusception and gastric outlet obstruction.
Area of Science:
- Pediatric Gastroenterology
- Clinical Genetics
- Surgical Oncology
Background:
- Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
- Characterized by gastrointestinal polyps, perioral hyperpigmentation, and increased cancer risk.
- Commonly presents in children with recurrent intussusception due to polyps.
Observation:
- This report highlights two pediatric PJS cases with atypical clinical manifestations.
- One child presented with retrograde intussusception.
- The other child experienced gastric outlet obstruction.
Findings:
- Gastrointestinal polyps in PJS can cause varied and uncommon presentations.
- Surgical intervention, including laparoscopy and open surgery with intraoperative enteroscopy, was required.
- Endoscopic polyp removal is common, but surgical excision is often necessary.
Implications:
- Recognizing uncommon PJS presentations is crucial for timely diagnosis and management in children.
- Early surgical intervention may be necessary for complex PJS-related gastrointestinal issues.
- Understanding diverse PJS manifestations aids in improving pediatric patient outcomes.
Abstract:
PeutzJegher's syndrome (PJS) is a rare, autosomal dominant disease, characterized by gastrointestinal (GI) polyps and perioral hyperpigmentation along with the increased risk of certain malignancies. In children, the most common presentation is recurrent intussusception due to polyps. These polyps can involve any part of the GI tract and can present with a variety of clinical presentations. Usually, these polyps can be removed endoscopically but often require surgical excision also. In this report, we discuss two children of PJS with uncommon presentations, one presented with retrograde intussusception and another with gastric outlet obstruction. The first child underwent laparoscopy and another required open surgery with intraoperative enteroscopy.
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