Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A retrospective clinical study was conducted to determine the success of a strict regimen employing the prolonged use of daily enemas in 203 children with chronic constipation. This study confirmed that the use of long-term daily enemas did eliminate constipation as well as the primary complaint of fecal soiling. The majority of children treated had an excellent to good result (85.8%) over an extended period of time. Patients with a past medical history of imperforate anus or Hirschsprung's disease required longer treatment periods (32.6 and 20.1 months, respectively) than children with other medical problems (rectal prolapse, rectal stricture, malrotation, spina bifida, mental retardation, psychological; 13 months) or patients with functional constipation (5.9 months).
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PMID:Long-term management of chronic constipation in children. 368 34

Rectal prolapse in children is not uncommon, but surgery is rarely indicated. In mentally challenged adults and children, rectal prolapse occurs more frequently than in the general population and often requires surgical intervention in the second to third decade of life. The authors describe 3 children with autism and mental retardation who presented with rectal prolapse at an earlier age than would be anticipated with mental retardation alone. All 3 children required surgical intervention.
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PMID:Rectal prolapse in autistic children. 1506 49

Juvenile polyposis coli (JPC) is an uncommon condition, manifesting as hamartomatous gastrointestinal polyposis with potential malignancy. This report describes a 15-month-old girl who was diagnosed to have nonfamilial JPC accompanied by macrocephaly, clubbed fingers, and mental retardation. Radiography of the colon by a barium enema and total colonoscopy demonstrated numerous colonic polyps. A barium meal study did not show any abnormality in the stomach, duodenum, or small intestine. She died at 6 years of age from hemorrhagic shock due to massive lower gastrointestinal bleeding associated with a rectal prolapse. The related literature is reviewed, and the treatments and complications of JPC in children are also discussed. We emphasize that family members of patients diagnosed with juvenile polyposis should be questioned and undergo appropriate examinations of the entire intestine from the stomach to the rectum.
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PMID:Nonfamilial juvenile polyposis coli in a child: report of a case. 1522 57

Williams-Beuren syndrome is a multysistem genetic disorder caused by the 1.6Mb hemizygous deletion involving the elastin gene in the region q11.23 of chromosome 7. The phenotype of Williams-Beuren syndrome is extremelly variable but the most common findings include cardiovascular disease, distinctive facies, mental retardation, a specific congitive profile, endocrine abnormalities, growth retardation and connective tissue abnormalities. Although gastrointestinal difficulties are one of the most constant and prominent finding of the syndrome, including gastro-esophageal reflux (GER), poor suckling, vomiting, constipation, prolonged colic, rectal prolapse, inguinal, umbilical and hiatal hernia, there have been no reports of achalasia in association with Williams-Beuren syndrome in the literature. We present the case of a boy with Williams-Beuren syndrome, achalasia and recurrent postoperative stenosis of the cardia. After Heller myotomy, the boy developed severe restenosis of the cardia with abundant adhesions which repeated after every treatment, five times in periods shorter than one month. Eventually, he developed GER, errosive gastritis and hiatal hernia which led to severe malnutrition and failure to thrive. Although the genetic defect causing Williams-Beuren syndrome might not be the direct cause of achalasia we suggest that the frequent development of severe restenosis of cardia due to tight adhesions could be the consequence of elastin gene haploinsufficiency and altered structure and function of elastic fibers in esophageal connective tissue. This case highlights the importance of early diagnosis of esophageal motor disorders in childhood which should be included in the differential diagnosis when a child with Williams-Beuren syndrome presents with dysphagia and/or regurgitation.
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PMID:Recurrent achalasia in a child with Williams-Beuren syndrome. 2205 84