Juvenile polyposis is an uncommon condition characterized by development of multiple juvenile polyps, predominantly in the colon but also in the rest of the gastrointestinal tract. The condition usually appears in childhood. The rarer and often fatal form, occurring in infancy, is typified by diarrhea, protein-losing enteropathy, bleeding, and rectal prolapse. The more common form of juvenile polyposis (affecting the colon, stomach, and small bowel) occurs in the first or second decade with rectal bleeding and anemia. We report a case of juvenile polyposis detected on sonography, which had been treated as severe anemia for 1 year.
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http://dx.doi.org/10.7863/jum.2002.21.11.1311 | 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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