title: Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities.
abstract: This report describes a new subgroup of familial visceral myopathy. Three patients from within this family were admitted to the hospital with pseudo-obstruction. Barium x-ray, abdominal plain film, esophageal manometry, colonoscopy, gastroscopy, and echocardiography were performed in all siblings for diagnostic evaluation. Two of our patients had surgery because of suspicion of acute abdomen. In one of them, full-thickness biopsy, which was performed during laparotomy, revealed findings that were compatible with familial visceral myopathy. Three siblings from this family with visceral myopathy, in which the parents were consanguineous, had megaduodenum, long-segment Barrett's esophagus, and different cardiac abnormalities.
authors.affiliation: Division of Gastroenterology, Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
authors.forename: Zeynel
authors.initials: Z
authors.lastname: Mungan
authors.forename: Filiz
authors.initials: F
authors.lastname: Akyüz
authors.forename: Zehra
authors.initials: Z
authors.lastname: Bugra
authors.forename: Oya
authors.initials: O
authors.lastname: Yönall
authors.forename: Sükrü
authors.initials: S
authors.lastname: Oztürk
authors.forename: Arif
authors.initials: A
authors.lastname: Acar
authors.forename: Ugur
authors.initials: U
authors.lastname: Cevikbas
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000328:Adult; D001471:Barrett Esophagus / Q000150:complications / Q000235:genetics* / Q000473:pathology; D001707:Biopsy, Needle; D004386:Duodenum; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007150:Immunohistochemistry; D007418:Intestinal Pseudo-Obstruction / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D008531:Megacolon / Q000150:complications / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D011379:Prognosis; D018570:Risk Assessment