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

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 heral...

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Autores principales: Almas, Talal, Hussain, Salman, Alsufyani, Reema, Alaeddin, Hasan, Khan, Muhammad Kashif
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7704158/
https://www.ncbi.nlm.nih.gov/pubmed/33269150
http://dx.doi.org/10.7759/cureus.11222
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author Almas, Talal
Hussain, Salman
Alsufyani, Reema
Alaeddin, Hasan
Khan, Muhammad Kashif
author_facet Almas, Talal
Hussain, Salman
Alsufyani, Reema
Alaeddin, Hasan
Khan, Muhammad Kashif
author_sort Almas, Talal
collection PubMed
description 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. 
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spelling pubmed-77041582020-12-01 Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease Almas, Talal Hussain, Salman Alsufyani, Reema Alaeddin, Hasan Khan, Muhammad Kashif Cureus Internal Medicine 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.  Cureus 2020-10-28 /pmc/articles/PMC7704158/ /pubmed/33269150 http://dx.doi.org/10.7759/cureus.11222 Text en Copyright © 2020, Almas et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Internal Medicine
Almas, Talal
Hussain, Salman
Alsufyani, Reema
Alaeddin, Hasan
Khan, Muhammad Kashif
Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease
title Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease
title_full Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease
title_fullStr Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease
title_full_unstemmed Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease
title_short Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease
title_sort non-familial juvenile polyposis syndrome presenting as rectal prolapse: an unusual presentation of a rare disease
topic Internal Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7704158/
https://www.ncbi.nlm.nih.gov/pubmed/33269150
http://dx.doi.org/10.7759/cureus.11222
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