Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The paper report a case of Seckel's syndrome in a girl aged 7 years and 2 months who was referred to the authors attention due to abdominal colic. Low birth weight together with a significant delay in weight and stature increase, microcephalia with the typical bird head and considerable mental retardation were sufficient to diagnose the syndrome. Interesting analogies were observed with another case of a patient with Seckel's syndrome born to an epileptic mother receiving antiepileptic treatment which was suspended during the second month of gestation. In the case presented here, no drugs were taken during pregnancy although the mother had received antiepilepsy treatment for years.
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PMID:[Seckel syndrome. Report of a case]. 779 18

Usually the ingested foreign bodies (IFB) pass the gastrointestinal tract making no lesions. Sometimes IFB could lead to a gastrointestinal perforation. The most frequently perforating IFB are chicken or fish bones and toothpicks, while risks factors are mental retardation, alcohol or drug abuse, denture usage, quick eating or habitual chewing of toothpicks. The accidentally ingestion in a high risk patient with unclear symptoms, added to a low sensitive diagnostic imaging, lead to intraoperative diagnosis in one half cases of gastrointestinal perforation by IFB. Furthermore the surgical treatment range between the less minimal invasive laparoscopic IFB extraction and intraabdominal hole suture to a laparotomic bowel or colic resection. Herein we describe our experience in 3 cases of gastrointestinal perforation by IFB have been diagnosed at surgery and treated by IFB extraction and hole suture (in 2 patients; 1 laparoscopy, 1 laparotomy) or open right emicolectomy (1 patient).
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PMID:[Intestinal perforation due to accidental ingestion of foreign bodies]. 2029 65

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