Related Experiment Videos
Gastroduodenal intussusception due to Peutz-Jeghers syndrome in infancy
Fred Boseto1, Edward Shi, John Mitchell
1Department of Surgery, Prince of Wales Hospital, High Street, Randwick 2031, Australia.
Insights
Peutz-Jeghers Syndrome (PJS) can manifest in infants with gastric-outlet obstruction. Early diagnosis via contrast studies and endoscopy, followed by combined surgical and endoscopic treatment, is crucial due to cancer risks.
Area of Science:
- Gastroenterology
- Pediatric Surgery
- Clinical Genetics
Background:
- Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder.
- It is characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
- PJS significantly increases the risk of various cancers.
Observation:
- This report details a rare case of PJS presenting in infancy.
- The infant exhibited symptoms of gastric-outlet obstruction.
- A positive family history of PJS was noted in this case.
Findings:
- PJS can present symptomatically in early infancy, not just later in life.
- Obstructive symptoms or gastrointestinal bleeding in infants with a PJS family history warrant high suspicion.
- Contrast studies and endoscopy are vital diagnostic and surveillance tools for PJS.
Implications:
- Prompt diagnosis and intervention are critical for managing PJS complications.
- Treatment necessitates a multimodal approach, often involving endoscopy and surgical procedures (laparotomy/laparoscopy).
- Lifelong surveillance from diagnosis is recommended due to the inherent cancer risk associated with PJS.
Abstract:
A case of Peutz-Jeghers Syndrome (PJS) presenting in infancy with gastric-outlet obstruction is described. PJS may become symptomatic at any age and should be suspected when there are obstructive symptoms or gastrointestinal blood loss in a baby with a positive family history. Contrast studies and endoscopy are useful in diagnosis and surveillance. Treatment requires a combination of endoscopy and laparotomy/laparoscopy. Because of the reported cancer risk, we recommend surveillance from the age of diagnosis.