Intussusception secondary to Peutz-Jeghers syndrome: a case report and literature review of diagnostic and therapeutic advances
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View abstract on PubMed
Summary
This summary is machine-generated.Peutz-Jeghers syndrome (PJS) is a rare genetic disorder causing polyps and pigmentation. Early diagnosis and management are crucial for preventing complications like intussusception and cancer.
Area Of Science
- Medical Genetics
- Gastroenterology
- Oncology
Background
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- Characterized by hamartomatous polyposis and mucocutaneous pigmentation.
- PJS increases the risk of gastrointestinal and other malignancies.
Purpose Of The Study
- To report a case of small intestinal intussusception secondary to PJS.
- To review diagnostic criteria, genetics, clinical features, and management of PJS.
- To highlight advancements in PJS management.
Main Methods
- Case report of a 19-year-old male with PJS.
- Diagnostic imaging (CT scan) revealing the "double-ring sign".
- Laparoscopic exploration and polyp resection, followed by histopathological confirmation.
Main Results
- The patient was diagnosed with small intestinal intussusception due to PJS polyps.
- Histopathology confirmed PJS.
- Review covers diagnostic criteria, genetic basis, clinical manifestations, and management advances.
Conclusions
- Early diagnosis, genetic screening, and lifelong surveillance are vital for PJS patients.
- Advancements in genetic testing, endoscopy, and multidisciplinary care improve outcomes.
- Optimizing therapeutic approaches requires refined diagnostic criteria and endoscopic innovations.
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