Literature DB >> 33269150

Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease.

Talal Almas1, Salman Hussain1, Reema Alsufyani1, Hasan Alaeddin1, Muhammad Kashif Khan2,3.   

Abstract

Juvenile polyposis syndrome is a rare inherited disorder that afflicts the gastrointestinal system. It usually occurs as a result of gene mutations; to date, several gene mutations, including those involving the bone morphogenetic protein receptor type IA (BMPR1A) gene, have been implicated in heralding the onset of the ailment. The disease is characterized by the infiltration of the gastrointestinal system with numerous hamartomas, which are predominantly benign. However, if left untreated, the hamartomas can undergo malignant transformations. Timely diagnosis and prompt surgical intervention are, therefore, imperative in portending favorable disease outcomes. We hereby delineate the case of a patient who presented with rectal prolapse and bleeding per rectum. Further diagnostic workup revealed the presence of polyps throughout the colon and the rectum, thereby insinuating a diagnosis of non-familial juvenile polyposis syndrome. The patient was managed through open surgery and continues to do well with no indications of disease recurrence.
Copyright © 2020, Almas et al.

Entities:  

Keywords:  juvenile polyposis syndrome; non-familial; rectal prolapse

Year:  2020        PMID: 33269150      PMCID: PMC7704158          DOI: 10.7759/cureus.11222

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  7 in total

Review 1.  Juvenile polyposis syndrome.

Authors:  Lodewijk Aa Brosens; Danielle Langeveld; W Arnout van Hattem; Francis M Giardiello; G Johan A Offerhaus
Journal:  World J Gastroenterol       Date:  2011-11-28       Impact factor: 5.742

2.  Colonic surgery in patients with juvenile polyposis syndrome: a case series.

Authors:  Mustafa Oncel; James M Church; Feza H Remzi; Victor W Fazio
Journal:  Dis Colon Rectum       Date:  2005-01       Impact factor: 4.585

3.  Juvenile polyposis--a precancerous condition.

Authors:  J R Jass; C B Williams; H J Bussey; B C Morson
Journal:  Histopathology       Date:  1988-12       Impact factor: 5.087

4.  Pediatric juvenile polyposis syndromes: an update.

Authors:  Sherry C Huang; Steven H Erdman
Journal:  Curr Gastroenterol Rep       Date:  2009-06

5.  Nonfamilial Juvenile Polyposis Syndrome with Exon 5 Novel Mutation in SMAD 4 Gene.

Authors:  Amna Ahmed; Badr Alsaleem
Journal:  Case Rep Pediatr       Date:  2017-03-27

6.  Juvenile polyposis syndrome: A case report.

Authors:  A Pérez-Castilla; P Peñailillo; D Oksenberg
Journal:  Int J Surg Case Rep       Date:  2019-05-03

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

Authors:  Murk Lakhani; Zainab Mohsin; Sarmad Pirzada; Imrana Zulfikar
Journal:  Cureus       Date:  2019-04-30
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.