Juvenile polyposis syndrome
Presentation in the second decade is most common 2.
Rectal bleeding, bowel obstruction and intussusception are common presentations.
Juvenile polyposis syndrome is characterized by the presence of hundreds of hamartomatous polyps containing fluid/mucous.
Both the tumor suppressor gene SMAD4 on chromosome 10q (50% of cases) and BMPR1A gene have been implicated. The genetic basis is not always known 1.
Other congenital abnormalities are present in 20% of patients 1,2:
- intestinal malrotation
- Meckel diverticulum
- congenital heart disease
- mesenteric lymphangioma
- pulmonary arteriovenous malformation
Treatment and prognosis
These hamartomatous polyps may degenerate into adenomas and subsequently ~40% will develop colorectal carcinoma 1.
- 1. Shussman N, Wexner SD. Colorectal polyps and polyposis syndromes. Gastroenterol Rep (Oxf). 2014;2 (1): 1-15. doi:10.1093/gastro/got041 - Free text at pubmed - Pubmed citation
- 2. Harned RK, Buck JL, Sobin LH. The hamartomatous polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol. 1995;164 (3): 565-71. doi:10.2214/ajr.164.3.7863873 - Pubmed citation
- 3. Seibert JJ, James CA. Pediatric radiology casebase. Thieme. ISBN:0865776970. Read it at Google Books - Find it at Amazon