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Peutz-Jeghers syndrome: A case series.
Narendra Pandit1, Durga Neupane2, Kunal Bikram Deo2
1Department of Surgical Gastroenterology, Birat Medical College Teaching Hospital, Morang, Nepal.
International Journal of Surgery Case Reports
|August 4, 2024
Summary
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing gastrointestinal polyps and increasing cancer risk. Early diagnosis through characteristic pigmentation and imaging is crucial for management.
Area of Science:
- Genetics
- Gastroenterology
- Oncology
Background:
- Peutz-Jeghers syndrome (PJS) is a rare hereditary disorder linked to STK11/LKB1 gene mutations.
- Characterized by hamartomatous polyps, primarily in the small bowel and colon.
Purpose of the Study:
- To present a case series of Peutz-Jeghers syndrome patients.
- To highlight diagnostic features and management strategies.
Main Methods:
- Case series of 4 patients (3 male, 1 female) with PJS.
- Clinical presentation, CT abdomen imaging, and surgical interventions were analyzed.
- Oral and lip melanin pigmentation noted as a common sign.
Main Results:
- Patients presented with abdominal pain and associated symptoms.
- Multiple jejunal, ileal, gastric, and colon polyps identified via CT.
- One patient diagnosed with cancer; all patients recovered well post-surgery.
Conclusions:
- PJS is an autosomal dominant disorder with significant gastrointestinal cancer risk.
- Early diagnosis aided by characteristic pigmentation and imaging is vital.
- Management is tailored to polyp location, presentation, and surgical expertise.
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