Giant Stomach Secondary to Juvenile Polyposis Syndrome.
Summary of "Giant Stomach Secondary to Juvenile Polyposis Syndrome."
INTRODUCTION:
Juvenile polyposis syndrome (JPS) is a rare, autosomal dominant condition. The polyps predominate in the colon but may be seen less commonly in the stomach or small intestine. We report an unusual case of JPS associated with massive gastric polyposis, resulting in a giant stomach, severe anemia, hematemesis, protein-losing enteropathy, and gastric outlet obstruction. Progressive complications ultimately necessitated a total gastrectomy.
CASE:
A 27-year-old woman presented in 2005 with severe anemia. Gastroscopy revealed severe gastric polyposis. Histopathology confirmed juvenile polyposis. Gastrectomy was initially declined. Progressive hematemesis, hypoproteinemia, and gastric outlet obstruction, however, resulted in a total gastrectomy 5 years following initial presentation. Massive gastric polyposis resulted in severe gastromegaly.
Affiliation
Department of Surgery, Mount Sinai Hospital, 600 University Avenue, Suite 1225, Toronto, ON, M5G 1X5, Canada.
Journal Details
This article was published in the following journal.
Name: Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract
ISSN: 1873-4626
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/22005895
- DOI: http://dx.doi.org/10.1007/s11605-011-1714-4
Medical and Biotech [MESH] Definitions
Adenomatous Polyposis Coli
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. The lifetime risk of colorectal cancer in these patients reaches 100 percent by age 60.
Adenomatous Polyposis Coli Protein
A negative regulator of beta-catenin signaling which is mutant in ADENOMATOUS POLYPOSIS COLI and GARDNER SYNDROME.
Genes, Apc
Tumor suppressor genes located in the 5q21 region on the long arm of human chromosome 5. The mutation of these genes is associated with familial adenomatous polyposis (ADENOMATOUS POLYPOSIS COLI) and GARDNER SYNDROME, as well as some sporadic colorectal cancers.
Gardner Syndrome
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
Giant Cells, Langhans
Multinucleated cells (fused macrophages) seen in granulomatous inflammations such as tuberculosis, syphilis, sarcoidosis, and deep fungal infections. They resemble foreign-body giant cells (GIANT CELLS, FOREIGN BODY) but Langhans giant cells contain less chromatin and their nuclei are arranged peripherally in a horseshoe-shaped pattern. Langhans giant cells occur frequently in delayed hypersensitivity.
PubMed Articles
Juvenile polyposis of the stomach-a novel cause of hypergastrinemia.
Background. A 38-year-old female presented with a 3-year history of postprandial abdominal pain, refractory nausea, vomiting and hematemesis. She appeared malnourished and her symptoms were refractory...
Juvenile polyposis syndrome (JPS) is a hereditary condition characterized by development of gastrointestinal polyps, and caused by mutations in SMAD4 or BMPR1A genes. Juvenile polyps can also be found...
Gastrointestinal polyposis syndromes.
Hereditary gastrointestinal polyposis syndromes account for around 1% of all colorectal cancers; most of them are associated with a broad spectrum of extracolonic tumors. The initial diagnosis is base...
Juvenile polyposis syndrome (JPS) and hereditary haemorrhagic telangiectasia (HHT) are autosomal dominant disorders with characteristic clinical phenotypes. Recently, reports of the combined syndrome...
We report on a patient with a contiguous interstitial germline deletion of chromosome 10q23, encompassing BMPR1A and PTEN, with clinical manifestations of juvenile polyposis and minor symptoms of Cowd...
Clinical Trials
Hydroxychloroquine in Giant Cell Arteritis
Cortico-dependence is frequent in giant cell arteritis patients, and no drugs has proved its ability to prevent corticodependence. Hydrocychloroquine is a well tolerated immunomodulatory d...
Clinical Trial Testing the Safety and Efficacy of Fluoxetine in Juvenile Fibromyalgia
The purpose of this research is to conduct an open, pilot trial to assess the efficacy and safety of fluoxetine in the treatment of Juvenile Primary Fibromyalgia Syndrome (JPFS).
HECTHOR: Humira to Spare Steroids in Giant Cell Arteritis
Hypothesis: In giant cell arteritis (GCA), a short initial treatment with anti-TNF may allow a faster decrease of steroids dosage and therefore avoid some of the adverse events of steroids...
Trial In Pediatric Patients With Familial Adenomatous Polyposis (FAP)
To test whether celecoxib can be used to prevent colon polyp formation in children with familial adenomatous polyposis (FAP).
RATIONALE: The use of intrauterine levonorgestrel may prevent atypical endometrial hyperplasia and endometrial cancer in women with hereditary non-polyposis colorectal cancer or Lynch synd...
