[Peutz-Jegher syndrome presenting with intussusception]

Area of Science:

• Gastroenterology
• Genetics
• Pediatric Medicine

Background:

• Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
• PJS is characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous hyperpigmentation.
• Increased cancer risk is associated with PJS, particularly gastrointestinal and breast cancers.

Observation:

• A case report details a patient with confirmed Peutz-Jeghers syndrome.
• Diagnosis was established via a small bowel tissue sample and characteristic lip hyperpigmentation.
• The patient presented with intussusception, necessitating surgical intervention.

Findings:

• The patient's intussusception led to a late diagnosis of Peutz-Jeghers syndrome.
• The presence of hyperpigmented macules on the lips and recurrent abdominal pain were noted.
• These clinical signs suggest potential for earlier PJS diagnosis.

Implications:

• Early diagnosis of Peutz-Jeghers syndrome is crucial for timely management and cancer surveillance.
• Recognizing mucocutaneous pigmentation and abdominal symptoms can aid in earlier PJS detection.
• This case highlights the importance of considering PJS in patients with suggestive clinical features, even without a family history.