The Concurrent Occurrence of Multiple Polyposis Coli with Hirsch Sprung Disease in a Single Patient (original) (raw)
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Juvenile Polyposis of the Colon
Journal of Ultrasound in Medicine, 2002
uvenile 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.
Colonic polyposis in a 15 year-old boy: Challenges and lessons from a rural resource-poor area
Annals of Medicine and Surgery, 2016
h i g h l i g h t s Polyposis syndromes present unique diagnostic and treatment challenges in resource-limited settings. Presentation may be with chronic symptoms and advanced disease. History and physical exam provide valuable information when other imaging and diagnostic modalities are not available. Previous reports from similar settings describe partial colectomies. Total proctocolectomy with ileal pouch reconstruction is feasible and safe.
Gastric and duodenal polyps in familial polyposis coli
Gut, 1981
Endoscopy with multiple biopsies of the upper gastrointestinal tract was repeated yearly over a two to six year period in nine patients with familial polyposis coli from three families. Adenomatous polyps, one to 20 in number and 2-8 mm in size, were detected in the antrum and the first and second duodenal portions in seven patients, while hyperplastic polyps were detected in four patients in the gastric body. In two patients adenomatous tubules were observed in the biopsies of endoscopically normal mucosa from the same area where adenomatous polyps later developed. Lymphoid polyps were detected in the antrum in three cases. Double contrast radiology correlated poorly with endoscopy in the gastric body; it allowed detection of polyps in the third duodenal portion in two more patients. These results confirm that the incidence of adenomas in the upper gastrointestinal tract in familial polyposis coli may be higher than previously suspected. Duodenal and gastric adenomas and carcinomas have occasionally been described in familial polyposis coli (FPC) by different authors,1-'0 carcinomas being particularly frequent in the pancreaticoduodenal region.2 4-6 9 We have already reported duodenal adenomatous polyps and tubules in biopsies from endoscopically normal antral mucosa in two patients with FPC.1" Systematic studies have recently been conducted in Japan on gastric and duodenal neoplasias in FPC,2-'8 which suggest that the incidence of these tumours may be higher than previously suspected. The present investigation aimed to detect any polyps or other gastroduodenal mucosal anomalies in nine FPC patients during a two to six year follow-up period by endoscopy, histology, and radiology. Methods PATIENTS Nine patients with FPC (three male and six female, aged 23 to 50 years), from three different families, were studied (Table). They had never presented with gastroduodenal symptoms except for one woman (B,) who had complained of occasional episodes of postprandial nausea and epigastric pain.
The growing complexity of the intestinal polyposis syndromes
American Journal of Medical Genetics, 2013
Familial adenomatous polyposis has been the first form of inherited intestinal polyposis to be recognized. For a long time it has been considered the main polyposis syndrome, associated with an easily recognizable phenotype, with a marginal role attributed to a few very rare hamartomatous conditions. More recently, it has been gradually demonstrated that the intestinal polyposes encompass a range of conditions within a wide spectrum of disease severity, polyp histology, and extraintestinal manifestations. A growing number of genes and phenotypes has been identified, and heterogeneity of somatic molecular pathways underlying epithelial transformation in different syndromes and associated tumors has been documented. Increasing knowledge on the molecular bases and more widespread use of genetic tests has shown phenotypic overlaps between conditions that were previously considered distinct, highlighting diagnostic difficulties. With the advent of next generation sequencing, the diagnosis and the classification of these syndromes will be progressively based more on genetic testing results. However, the phenotypic variability documented among patients with mutations in the same genes cannot be fully explained by different expressivity, indicating a role for as yet unknown modifying factors. Until the latter will be identified, the management of patients with polyposis syndromes should be guided by both clinical and genetic findings.
Juvenile Polyposis Coli with Atypical Features
Marmara Medical Journal, 1999
A 22-year-old woman was found to have 25 polyps involving the rectum and the entire colon. Pathologic examination revealed numerous polyps that were predominantly of juvenile type with hyperplastic, adenomatous, villous and tubulovillous features in addition to a villous adenoma. These observations emphasize the relationship between these polyps and the neoplastic potential of juvenile polyposis. Additionally, this is the first case report of juvenile polyposis in association with cervical rib. Key Words: Juvenile polyposis, Adenomatous polyps, Hyperplastic polyp.
Gastrointestinal Polyposis in Pediatric Patients
Journal of Pediatric Gastroenterology & Nutrition, 2019
Gastrointestinal polyps are mucosal overgrowths that, if unchecked, can undergo malignant transformation. Although relatively uncommon in the pediatric age group, they can be the harbingers of multiorgan cancer risk and require close management and follow-up. Additionally, as many polyposis syndromes are inherited, appropriate genetic testing and management of relatives is vital for the health of the entire family. In this review, we discuss both common and uncommon childhood gastrointestinal polyposis syndromes in terms of clinical presentation, management, and surveillance. We also detail any additional malignancy risk and surveillance required in the pediatric age group (<21 years old). Through this review, we provide a framework for gastroenterologists to manage the multifaceted nature of pediatric polyposis syndromes.
Surgery Today, 2006
bleeding, and disastrous consequences of bowel infarction caused by intussusception. It is also associated with a risk of malignancy. 3 However, massive GI hemorrhage is an extremely rare presentation of juvenile polyposis and to the best of our knowledge has been reported only twice before. 4 We report two further cases of children presenting with life-threatening GI hemorrhage from juvenile polyposis. Case Report Case 1 An 8-year-old girl was brought to our emergency department after the sudden onset of rectal bleeding with syncope. She had no history of abdominal pain, vomiting, fever, weight loss, diarrhea, previous episodes of melena, hematochezia, or any GI, liver, or bleeding disorder. Moreover, she had no family history of polyposis and a search for the disease among her close relatives was negative. Physical examination revealed an unwell, pale, but well-nourished girl. Her pulse was 140 beats/min, respiratory rate 28/min, and blood pressure 90/50 mmHg in the supine position. She was afebrile, had no icterus, lip or oral pigmentations, nor any cutaneous lesions. Chest and cardiovascular examinations were unremarkable. The relevant laboratory investigations were as follows: hemoglobin 4.0 g/dl, normal leukocyte and platelet counts, serum albumin 2.5 g/dl, and normal coagulation profile. Her abdomen was soft and nontender without organomegaly or any masses. Proctoscopy revealed frank blood and multiple polyps in the rectum. Air contrast barium enema without bowel preparation revealed numerous polyps in the rectum, rectosigmoid, splenic and hepatic flexure, and cecum (Fig. 1). She was admitted and transfused with 4 units of packed red blood cells for the ongoing blood loss. She underwent an emergency laparotomy within 48 h.