A familial visceral myopathy with dilatation of the entire gastrointestinal tract.
We are reporting a new kindred in which familial visceral myopathy was identified in four siblings. There was no other symptomatic case identified in this 75-member, four-generation family, suggesting an autosomal recessive inheritance. All patients had recurrent symptoms of intestinal obstruction, and 3 died from malnutrition. Gastrointestinal lesions showed marked dilatation of the entire digestive tract from the esophagus to the rectum, which is different from other types of familial visceral myopathies. Microscopic examination of the gastrointestinal smooth muscle showed degeneration and increased fibrosis indistinguishable from other types of familial visceral myopathy.
D000328:Adult; D004064:Digestive System / Q000473:pathology; D004108:Dilatation, Pathologic / Q000235:genetics; D005260:Female; D005767:Gastrointestinal Diseases / Q000235:genetics* / Q000473:pathology; D005799:Genes, Dominant; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D008875:Middle Aged; D009130:Muscle, Smooth / Q000473:pathology*; D010375:Pedigree