DOI: http://dx.doi.org/10.18203/2320-6012.ijrms20170183

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

Kusuma Venkatesh, Karishma Pillarisetty, Sreedhara Murthy B. N.

Abstract


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.

Keywords


Extraintestinal anomalies, Hamartomatous polyps, Juvenile polyposis coli

Full Text:

PDF

References


Manfredi M. Hereditary Hamartomatous Polyposis Syndromes: Understanding the Disease Risks As Children Reach Adulthood. Gastroenterology & Hepatology. 2010;6:185-96.

Sachatello CR. Polypoid diseases of the gastrointestinal tract. J Ky Med Assoc. 1972;70:540-4.

Bussey HJ, Veale AM, Morson BC. Genetics of gastrointestinal polyposis. Gastroenterology. 1978;74:1325.

Cichy W, Klincewicz B, Plawski A. Juvenile polyposis syndrome. Arch Med Sci. 2014;10:570-7.

Howe JR, Roth S, Ringold JC, Summers RW, Jarvinen HJ, Sistonen P, et al. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science. 1998;280:1086-8.

Jass JR, Williams CB, Bussey HJ, Morson BC. Juvenile polyposis-a precancerouscondition. Histopathology. 1988;13:619-30.

Desai DC, Neale KF, Talbot IC, Hodgson SV, Phillips RK. Juvenile polyposis. Br J Surg. 1995;82:14-7.

Calva D, Howe JR. Hamartomatous polyposis syndromes. Surg Clin NorthAm. 2008;88:779-17.

Subramony C, Scott-Conner CE, Skelton D, Hall TJ. Familial juvenile polyposis, study of a kindred: Evolution of polyps and relationship to gastrointestinal carcinoma. Am J Clin Pathol. 1994;102:91-7.

Coburn MC, Pricolo VE, DeLuca FG, Bland KI. Malignant potential in intestinal juvenile polyposis syndromes. Ann Surg Oncol. 1995;2:386-91.