Non-familial Juvenile Polyposis Syndrome Presenting as Rectal Prolapse: An Unusual Presentation of a Rare Disease
| Autor: | Salman Hussain, Hasan Alaeddin, Talal Almas, Reema Alsufyani, Muhammad Kashif Khan |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
Rectum Disease 030204 cardiovascular system & hematology Gene mutation 03 medical and health sciences Pediatric Surgery 0302 clinical medicine Internal Medicine medicine Juvenile polyposis syndrome non-familial business.industry Open surgery General Engineering medicine.disease Dermatology BMPR1A juvenile polyposis syndrome Rectal prolapse medicine.anatomical_structure Oncology business rectal prolapse 030217 neurology & neurosurgery Rare disease |
| Zdroj: | Cureus |
| ISSN: | 2168-8184 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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