FATAL CONGENITAL MYOPATHY AND GASTROINTESTINAL PSEUDO-OBSTRUCTION DUE TO POLG1 MUTATIONS
نویسندگان
چکیده
منابع مشابه
Acute large bowel pseudo-obstruction due to atrophic visceral myopathy: A case report
PURPOSE Atrophic visceral myopathy is a pathological diagnosis characterized by atrophy of the smooth muscle layers of the viscera with intact ganglia. Rarely, it can present acutely as an intestinal pseudo-obstruction. We describe a rare case report and explore how this diagnosis can be distinguished from other forms of intestinal obstruction. CASE DESCRIPTION A 60-year-old male with a past ...
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BACKGROUND The obstetric risk associated with myopathy due to MATR3 mutations is unknown. METHODS Eight women with the MATR3 p.S85C mutation were recruited. Information on pregnancy, outcome, and effect on muscular function was analysed retrospectively using a pregnancy and delivery questionnaire. The data were compared with information from the German perinatal quality survey. RESULTS All ...
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Postoperative pseudo-obstruction is a rare state of protracted gastrointestinal paresis that may progress to paralysis without the presence of obstructive lesions. Pseudo-obstruction is usually, but not exclusively, associated with an abdominal operative procedure (laparotomy), however, it may occasionally occur following extra-abdominal operations. As differentiated from the usual, 'physiologi...
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Intestinal pseudo-obstruction is a condition in which the intestine’s ability to push food through is reduced. It often leads to the dilation of the various parts of the bowel. It can be idiopathic or inherited from a parent, or caused by another disease. We report a rare case of human immunodeficiency virus (HIV) infection in a 3-year-old boy who referred with acute abdominal pain, and was lat...
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BACKGROUND Plaster ingestion forming gastric bezoar is a strange way to attempt suicide and this method has not yet been reported. It may lead to a mechanical obstruction of the gut, especially the pyloric region, and could manifest with abdominal pain, epigastric distress, nausea, vomiting, and fullness. CASE PRESENTATION Herein we report a case of a 37 year-old woman presenting with plaster...
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ژورنال
عنوان ژورنال: Neurology
سال: 2009
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000345002.47396.e1