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.

Insights

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.
Abstract

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