A Rare Case of Juvenile Polyposis Syndrome in a 13-year-old Girl from a Rural Area.

Murk Lakhani,Zainab Mohsin,Imrana Zulfikar,Sarmad Pirzada

doi:10.7759/cureus.4567

Abstract

Juvenile polyposis syndrome (JPS) is a non-cancerous benign growth predominant in a young population with an estimated incidence of one in 1, 00,000 to 1, 60,000 per year. It is a rare genetic presentation, which can occur sporadically as well. There is a 39% evident risk of developing colorectal carcinoma. Herein, we present an unusual case of a 13-year-old girl from a rural area with a negative family history of juvenile polyposis, who had complaints of rectal prolapse and rectal bleeding which were more pronounced after defecation. Her contrast computed tomography (CT) scan revealed a distended large bowel studded with multiple juvenile polyps throughout, the largest of which was detected on the mid rectum. Colo-colic intussusception was also found due to a large polyp at the hepatic flexure, inferiorly extending up to ascending colon and caecum. Pan proctocolectomy with ileoanal J pouch anastomosis was performed, bearing in mind the risk for colorectal cancer and her general state of health.

Highlights

Juvenile polyposis syndrome (JPS) is characterized as a non-cancerous benign growth, which occurs predominantly in the young population. It commonly presents with anemia, abdominal pain, diarrhea and bleeding per rectum; in few case presentations, it may be accompanied by intussusception, intestinal obstruction or polyp prolapse
Diagnosis for polyposis requires upper and lower gastrointestinal tract endoscopy, polyp excision, and cytology; we present an unusual case of JPS, which originated in a resource-limited area of diagnosis and treatment
JPS is one of the hamartomatous polyposis syndromes usually associated with mutations in either of the two genes namely BMPR1A and SMAD4, linked to the TGF-B/BMP signaling pathway [3]

Summary

Introduction

Juvenile polyposis syndrome (JPS) is characterized as a non-cancerous benign growth, which occurs predominantly in the young population It commonly presents with anemia, abdominal pain, diarrhea and bleeding per rectum; in few case presentations, it may be accompanied by intussusception, intestinal obstruction or polyp prolapse (through the anal sphincter). The mass was small in size it progressively increased in size, which protruded on defecation and had to be reduced manually It was associated with fresh bleeding and pain after passing stool. The patient had no significant history of nausea, vomiting, diarrhea, constipation, blood transfusion or any surgery Her family history was negative for colonic polyps and cancer. She was taken to a local general physician in her area but her condition did not improve. There were no active complains within one-month follow-up post discharge

Discussion

Conclusions

Disclosures

Durno CA