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Gastric outlet obstruction in a neonate because of Peutz-Jeghers syndrome

Christine Burgmeier1, Felix Schier, Gundula Staatz

  • 1Department of Pediatric Surgery, University Medical Center Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany. christine.burgmeier@uimedizin-mainz.de

Journal of Pediatric Surgery
|August 21, 2012
PubMed

Insights

Neonatal Peutz-Jeghers syndrome is rare, with this case being the first of inherited gastric outlet obstruction. Early surgical intervention for polyps in this infant proved successful.

Area of Science:

  • Pediatric Gastroenterology
  • Medical Genetics
  • Surgical Neonatology

Background:

  • Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder.
  • Neonatal presentation of PJS is exceptionally uncommon, with limited prior case reports.
  • PJS is characterized by hamartomatous polyps and increased cancer risk.

Observation:

  • A neonate presented with symptoms of gastric outlet obstruction.
  • The obstruction was caused by two large polyps consistent with Peutz-Jeghers syndrome.
  • The infant had a family history of Peutz-Jeghers syndrome, indicating an inherited form.

Findings:

  • The neonate underwent colonoscopy, abdominal exploration, and surgical resection of three polyps.
  • This case represents the first documented instance of inherited Peutz-Jeghers syndrome causing gastric outlet obstruction in a neonate.
  • Postoperative recovery was uneventful, with the infant discharged at three weeks of age.

Implications:

  • Highlights the importance of considering PJS in neonates with gastrointestinal obstruction.
  • Emphasizes the potential for early-onset, severe manifestations of inherited PJS.
  • Demonstrates the feasibility and success of surgical management in affected neonates.

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