Familial visceral myopathy with pseudo-obstruction, megaduodenum, Barrett's esophagus, and cardiac abnormalities.
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.
Mungan
Zeynel
Z
Division of Gastroenterology, Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Akyüz
Filiz
F
Bugra
Zehra
Z
Yönall
Oya
O
Oztürk
Sükrü
S
Acar
Arif
A
Cevikbas
Ugur
U
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