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Juvenile polyposis syndrome: A case report
A Pérez-Castilla1, P Peñailillo1, D Oksenberg2
1Department of Digestive Surgery, Clinica Indisa. Santiago, Chile; University Andrés Bello, Faculty of Medicine. Santiago, Chile.
Juvenile polyposis syndrome, an inherited condition, typically affects the colon. This case highlights a rare instance of massive gastric polyposis requiring total gastrectomy.
Area of Science:
- Gastroenterology
- Genetics
- Surgical Pathology
Background:
- Juvenile polyposis syndrome (JPS) is an uncommon autosomal dominant inherited disorder.
- Characterized by hamartomatous polyps throughout the gastrointestinal tract, predominantly in the colon.
- Massive gastric polyposis is an unusual presentation of JPS.
Purpose of the Study:
- To report a rare case of JPS with massive gastric polyposis.
- To describe the diagnostic and therapeutic approach for this rare manifestation.
- To emphasize the importance of considering gastric involvement in JPS.
Main Methods:
- A 22-year-old male patient presented with chronic upper gastrointestinal bleeding.
- Diagnostic gastroscopy revealed extensive gastric polyposis.
- Initial endoscopic polypectomy was followed by total gastrectomy due to symptom progression.
- Histopathological examination confirmed massive gastric juvenile polyposis.
Main Results:
- The patient presented with significant gastrointestinal bleeding attributed to gastric polyps.
- Endoscopic treatment was insufficient, necessitating surgical intervention.
- Histology confirmed the diagnosis of juvenile polyposis syndrome with massive gastric involvement.
Conclusions:
- Massive gastric polyposis is an infrequent but significant manifestation of juvenile polyposis syndrome.
- Total gastrectomy may be required for management of severe gastric polyposis in JPS.
- This case underscores the variability of JPS presentation.
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