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Ileo-ileal intussusception secondary to a Peutz-Jeghers hamartomatous polyp in an infant
Jonathan J Neville1, Sarah Ellul2, Costa Healy2
1Department of Paediatric Surgery, Royal Alexandra Children's Hospital, Brighton, UK jonathan.neville@nhs.net.
Insights
This case report details an infant with ileo-ileal intussusception caused by a Peutz-Jeghers syndrome (PJS) hamartomatous polyp. Early diagnosis and surgical intervention led to a successful recovery, highlighting PJS as a rare cause of infant intussusception.
Area of Science:
- Pediatric Surgery
- Gastroenterology
- Genetics
Background:
- Intussusception is a common surgical emergency in infants, typically idiopathic.
- Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract.
- PJS increases the risk of various complications, including intussusception, obstruction, and malignancy.
Observation:
- A male infant presented with non-bilious vomiting and hematochezia.
- An upper gastrointestinal contrast study revealed proximal bowel obstruction.
- Laparotomy identified ileo-ileal intussusception with a papillary hamartomatous polyp serving as the lead point.
Findings:
- Surgical resection of the hamartomatous polyp and primary anastomosis were performed.
- Histological examination confirmed a Peutz-Jeghers syndrome hamartoma.
- The infant recovered well, with discharge on postoperative day 5 and remained well at 1-month follow-up.
Implications:
- This case highlights Peutz-Jeghers syndrome as a rare but critical cause of intussusception in infants.
- Early recognition and management are crucial for favorable outcomes.
- Diagnosis of PJS in infancy is uncommon and necessitates lifelong surveillance for associated complications.
Abstract:
We report the case of ileo-ileal intussusception secondary to a Peutz-Jeghers syndrome (PJS) hamartomatous polyp in a male infant. The patient presented with non-bilious vomiting and a single episode of passing blood in his stool. An upper gastrointestinal contrast study showed proximal bowel obstruction. At laparotomy, ileo-ileal intussusception was identified with a papillary mass acting as a lead point. The mass was resected, and a primary anastomosis was performed. The patient recovered well and was discharged on postoperative day 5. Histological assessment diagnosed a PJS hamartoma. The patient was well at 1 month follow-up. This case report describes a rare cause of intussusception in an infant that should be considered in the differential diagnosis. The diagnosis of PJS in infancy is uncommon and requires long-term follow-up.
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