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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6599469PMC
http://dx.doi.org/10.7759/cureus.4567DOI Listing

Publication Analysis

Top Keywords

juvenile polyposis
12
polyposis syndrome
8
13-year-old girl
8
girl rural
8
rural area
8
rare case
4
juvenile
4
case juvenile
4
syndrome 13-year-old
4
area juvenile
4

Similar Publications

Background: Lung transplantation is a viable lifesaving option for patients with diffuse pulmonary arteriovenous malformations (AVMs). We present a case of diffuse pulmonary AVMs associated with juvenile polyposis and hereditary hemorrhagic telangiectasia (JP-HHT) that was successfully managed by lung transplantation.

Case Presentation: A 19-year-old woman developed severe hypoxemia due to pulmonary AVMs diagnosed at 4 years of age.

View Article and Find Full Text PDF
Article Synopsis
  • Peutz-Jeghers syndrome (PJS) and juvenile polyposis syndrome (JPS) are hereditary conditions linked to a high risk of cancer, but their prevalence and incidence in Japan were previously unknown.
  • A nationwide survey in 2022 revealed that there are an estimated 701 patients with PJS and 188 with JPS in Japan, with low prevalence and incidence rates highlighted.
  • Results also showed a higher male representation in both conditions and indicated a need for further research on clinical details and outcomes associated with these syndromes.
View Article and Find Full Text PDF

Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal vascular dysplasia characterized by the presence of mucocutaneous telangiectasia and arteriovenous malformations in solid organs. The Curaçao criteria and/or detection of ALK1, ENG, and SMAD4 gene mutations are used for diagnosis. Juvenile Polyposis Syndrome (JPS) is diagnosed according to the number and localization of juvenile polyps, and family history of JPS.

View Article and Find Full Text PDF
Article Synopsis
  • Pediatric patients with gastrointestinal (GI) polyposis and cancer often have hereditary cancer risk syndromes that necessitate ongoing cancer screening.
  • Recognizing at-risk individuals through family history and clinical features aids in effective cancer risk assessment and management from childhood onward.
  • The 2024 updates to hereditary GI cancer screening guidelines emphasize collaboration between pediatric and adult gastroenterology to enhance management practices, focusing on conditions like familial adenomatous polyposis, Peutz-Jeghers syndrome, and juvenile polyposis syndrome.
View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!