Peutz-Jeghers syndrome: is family screening needed?

Area of Science:

• Pediatric Gastroenterology
• Clinical Genetics
• Surgical Pathology

Background:

• Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
• PJS significantly increases the risk of various cancers, including gastrointestinal, breast, ovarian, and testicular cancers.
• Intussusception is a common pediatric surgical emergency, often caused by a polyp in PJS patients.

Observation:

• A 7-year-old boy presented with intussusception, where a small-bowel polyp was identified intraoperatively as the lead point.
• Histopathological examination confirmed the polyp as a hamartoma, leading to a diagnosis of Peutz-Jeghers syndrome (PJS).
• Clinical evaluation revealed that all four asymptomatic siblings also exhibited intestinal polyposis.

Findings:

• The case highlights hamartomatous polyps as a critical cause of intussusception in pediatric PJS.
• Early diagnosis of PJS through identifying polyps in intussusception is crucial.
• Genetic predisposition in families with PJS necessitates thorough investigation of all members.

Implications:

• All children within a family diagnosed with PJS require comprehensive gastrointestinal screening.
• Surgical intervention is indicated for intussusception caused by a polyp, especially in a critical location.
• Timely diagnosis and management of PJS can mitigate the risk of complications and associated malignancies.