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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http://dx.doi.org/10.7759/cureus.11222 | DOI Listing |
Gen Thorac Cardiovasc Surg Cases
December 2024
Department of Thoracic Surgery, Kyoto University Graduate School of Medicine, Kyoto, 606-8507, Japan.
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.
J Gastroenterol Hepatol
December 2024
Division of Gastroenterology, Department of Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan.
Fam Cancer
November 2024
A.R.G. (Argentine Rendu Study Group), Ciudad Autónoma de Buenos Aires, Argentina.
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 PDFClin Cancer Res
October 2024
Texas Children's Cancer Center, Baylor College of Medicine, Houston, Texas.
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