Juvenile polyposis syndrome with extraintestinal anomalies: report of a rare case with review of literature

Juvenile polyposis coli is a rare condition in children with neoplastic potential having an incidence of about 1 in 1,00,000 population. A minority of such patients have extraintestinal abnormalities like cardiac and pulmonary arteriovenous malformations. Juvenile polyposis is a disorder of hamartomatous polyposis syndrome having a malignant potential. The progression of hamartomatous polyp to carcinoma is still elucidated when compared to the understanding of transformation of an adenomatous polyp into a carcinoma via a gatekeeper defect. Here is the report of a rare case of Juvenile polyposis in a 7 year old boy who presented with bleeding per rectum and prolapsed rectum showing multiple polyps. Patient had undergone surgery for closure of ventricular septal defect and pulmonary valvotomy 3 years back. Proctocolectomy was done and the resected colon showed 40 polyps. Histologically polyps contained benign glandular tissue and one of the larger polyps showed low grade epithelial dysplasia. In this case, there was no positive family history and extraintestinal congenital defects are said to be more common in such sporadic cases.