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

Congenital disorders of glycosylation (CDG) are caused by defects in protein N-glycosylation. These inherited disorders impact multiple organ systems, including the liver, its glycoprotein products, and the gastrointestinal system. Many patients have hypotonia, psychomotor retardation, developmental delay, and failure to thrive. Limited awareness of CDG and the diverse biological functions of glycosylation contribute to underdiagnosis of these disorders. Pediatric hepatologists and gastroenterologists are likely to encounter CDG patients early on in their workups. This review will discuss the clinical pictures, biochemistry, molecular defects, diagnosis, and, for one type, an effective treatment. The broad and diverse CDG presentations within and between the various types indicate that it should be considered in any case of unexplained developmental delay, hepatopathology, especially hepatic fibrosis and/or steatosis, protein-losing enteropathy, coagulopathy, hypoglycemia, and failure to thrive.
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PMID:Congenital disorders of glycosylation and the pediatric liver. 1174 38