Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a case report of juvenile gastrointestinal polyposis involving the gastrointestinal system from the stomach to the rectum. Only few cases have been reported and extra-intestinal manifestations of this syndrome include macrocephaly, hepatosplenomegaly, hypotonia, clubbing of fingers, anemia and protein-losing enteropathy. The disease usually has a poor prognosis, and the children rarely live more than 2 years.
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PMID:Infantile Cronkhite-Canada syndrome?--Case report. 132 40

This is a report of a case of juvenile gastrointestinal polyposis consisting of widespread juvenile polyps encountered from the stomach into the rectum. Only few cases have been reported, and extra intestinal manifestations include clubbing of fingers, macrocephaly, hypotonia, hepatosplenomegaly, anemia, and protein-losing enteropathy. The outcome is usually dismal, the children barely becoming older than 2 years. Modern fibreoptic endoscopy with polypectomies performed via the upper and lower gastrointestinal intestinal tracts and via a midbowel ileostomy may offer a viable form of management.
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PMID:Juvenile gastrointestinal polyposis or the infantile Cronkhite-Canada syndrome. 379 50

In this prospective study, we assessed the diagnostic capabilities of multidetector computed tomography (CT) in various esophageal pathologic conditions. Thirty-three patients underwent a multidetector CT study after esophageal distention by means of effervescent powder administered after induction of pharmacologic esophageal hypotonia. All acquired images were post-processed with two- and three-dimensional software tools. The CT data were compared with the results of conventional radiology (33), endoscopy (28), endoscopy ultrasonography (14), or surgery (14). Follow-up ranged between 4 and 15 months. Esophageal distention in the upper and middle thirds was classified as "good" in 32 of 33 cases (97%); in the lower third, esophageal distention was "good" in 21 of 33 cases (64%). Final diagnoses were leiomyoma (six cases), squamous cell carcinoma (six), adenocarcinoma (four), esophageal infiltration by thyroid cancer (two), benign polyposis (two), chronic esophagitis (five), post-sclerotherapy stenosis (one), no abnormalities (seven). When good distention was achieved, the thickness of unaffected esophageal wall was less than 3 mm (range, 1.5-2.4 mm; mean, 1.9 mm). Pathologic wall thickening was observed in 25 of 33 cases (76%), with values ranging between 3.6 and 36 mm (mean, 9.6 mm). Spiral CT demonstrated 21 true positive cases, and seven true negative cases. There were four false negative cases and one false positive case. Sensitivity was 84%, specificity was 87%, diagnostic accuracy was 85%, positive predictive value was 95%, and negative predictive value was 64%. Evaluation of the esophagus with multidetector CT is a promising technique and easy to use, allowing panoramic exploration, virtual endoluminal visualization, accurate longitudinal and axial evaluations, and simultaneous evaluation of T and N parameters.
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PMID:Multidetector CT and virtual endoscopy in the evaluation of the esophagus. 1516 Jul 44

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 in a related group of syndromes with multisystemic involvement including Cowden disease, Lhermitte-Duclos disease, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome, all grouped as PTEN hamartoma tumor syndromes (PHTS). In all these conditions including JPS, polyps manifest in older childhood or early adulthood. Infantile juvenile polyposis (JPI) is a rare entity, presenting in the first year of life with severe gastrointestinal symptoms. Many of these patients have associated macrocephaly, hypotonia, and congenital anomalies. It was recently recognized that patients with infantile polyposis have a 10q23 microdeletion, involving both BMPR1A and PTEN genes. There is a major risk for gastrointestinal malignancies in these patients, but the risk for development of other tumors is not known. We describe a patient with a history of infantile polyposis, macrocephaly, developmental delay, hypotonia, and a 10q23 microdeletion. At age 14 she presented with bilateral mucinous cystadenoma of the ovary. This type of tumor was not previously reported in association with JPS, 10q23 microdeletion syndrome, or infantile polyposis. We believe that ovarian cystadenomas may be another neoplastic complication of infantile polyposis, and that our report widens the spectrum of the 10q23 microdeletion phenotype.
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PMID:Mucinous cystadenoma of ovary in a patient with juvenile polyposis due to 10q23 microdeletion: expansion of phenotype. 2081 35