Jul 15, 2008

Juvenile Polyposis Syndrome

Introduction: Juvenile polyposis syndrome consists of three conditions, diffuse juvenile polyposis of infancy, diffuse juvenile polyposis & juvenile polyposis coli. These syndrome is characterised by multiple polyps in the gastrointestinal tract.

1.Diffuse juvenile polyposis of infancy: This occurs in first few months of life. The child presents with loose motions, blood in stool, protein loosing enteropathy, tendency for intussusception & hypotonia. On investigation, there are multiple polyps through out gastrointestinal tract. The treatment is keeping the baby nil by mouth & starting her/him on total parenteral nutrition.Once the condition stabilizes, then segmental resection. In spite of all the efforts, the prognosis of this condition is dismal.

2.Diffuse juvenile polyposis: This condition occurs at the age of 6 months to 5 years. The child presents with recurrent rectal bleeding & prolapse.There may be signs of malnutrition. The polyps are found in stomach, small intestine & large intestine including rectum. The treatment is either endoscopic polypectomies, open polypectomies and/or segmental resection. The prognosis is better though the need of long term follow-up for recurrence is high.

3. Juvenile polyposis coli: This is a genetic disorder with an autosomal dominant gene. The polyps are present in colon though mainly in sigmoid colon & rectum. The treatment is debatable as one school of thought is total colectomy, rectal mucosectomy & endoanal pull-through while other school of thought is endoscopic resection of polyps & regular colonoscopy. If one finds mucosal changes or dysplasia then resection is done.

In juvenile polyposis syndrome, the chances of development of carcinoma in later life is high even if the treatment is completed so the long term follow-up is mandatory.