DISSEMINATED JUVENILE POLYPOSIS SYNDROME: A CASE REPORT

Case Presentation Male, 17 years old, with a family history of polyposis. At 4 years old, he presented with a polyp that exteriorized during defecation; polypectomy was performed with no further issues. In November 2020, at 12 years old, he began experiencing abdominal pain and enterorrhagia; colonoscopy showed sessile and pedunculated polyps in all colonic segments and rectum (>100). Polypectomy was performed, and histopathological analysis revealed an inflammatory hyperplastic polyp. In January 2021, he presented with abdominal pain associated with abdominal distention, nausea, and enterorrhagia, with no signs of peritoneal irritation. He was referred to the emergency department with a hemoglobin level of 10.4 g/dL. A CT scan suggested intestinal intussusception involving the cecum, ascending colon, and transverse colon, with the “head” of the invagination located in the descending colon. Abdominal ultrasound revealed free fluid in the pelvic cavity. Right colectomy and ileo-transverse lateral-lateral anastomosis were performed without complications. In follow-up care, a colonoscopy in 2022 showed numerous sessile and pedunculated polyps ranging from 0.5 to 2 cm. Immunohistochemical study confirmed juvenile hamartomatous polyps, and an upper digestive endoscopy revealed a polyp in the cardia, diagnosing Disseminated Juvenile Polyposis Syndrome. A 2023 colonoscopy with polypectomy showed multiple juvenile polyps in the large intestine. He is currently under outpatient follow-up.

Discussion Juvenile Polyposis Syndrome is an autosomal dominant genetic condition characterized by the formation of multiple hamartomatous polyps in the gastrointestinal tract, more commonly affecting males, with an average age of 18 years. In 80% of cases, polyps are found in the colon and rectum. Most polyps are benign and symptomatic, causing bleeding, anemia, intestinal obstruction, rectal prolapse of the polyp, and intussusception. Diagnosis requires at least five juvenile polyps in the colorectal region, juvenile polyps in other parts of the gastrointestinal tract, or any number of juvenile polyps in an individual with a family history of juvenile polyps. Many cases are treated with endoscopic polypectomy, but surgery may be required in some cases.

Conclusion This case underscores the importance of diagnosis and continuous monitoring of the condition due to the risk of progression to malignancy or obstructive complications, which can lead to high mortality.

No conflict of interest has been declared by the author(s).

Publication History

Article published online:
25 April 2025