Endoscopy 2014; 46(06): 533-537
DOI: 10.1055/s-0034-1365142
Case report/series
© Georg Thieme Verlag KG Stuttgart · New York

Familial visceral myopathy diagnosed by exome sequencing of a patient with chronic intestinal pseudo-obstruction

Øystein L. Holla
1  Department of Medical Genetics, Telemark Hospital, Skien, Norway
Gunter Bock
2  Department of Gastrointestinal Surgery, Telemark Hospital, Skien, Norway
Øyvind L. Busk
1  Department of Medical Genetics, Telemark Hospital, Skien, Norway
Björn Logi Isfoss
3  Department of Pathology, Telemark Hospital, Skien, Norway
› Author Affiliations
Further Information

Publication History

submitted 07 January 2014

accepted after revision 16 January 2014

Publication Date:
28 April 2014 (online)

A 55-year-old woman with a history of bowel dysmotility presented with abdominal distension and peritonitis. Family history included premature deaths with intestinal symptomatology, suggesting autosomal dominant inheritance. Computed tomography showed a distended small bowel. Symptoms were alleviated by enterocutaneous stomas. Initial ileal biopsy suggested neuropathy; however, exome sequencing revealed an Arg148Ser mutation in the enteric smooth muscle actin gamma 2 (ACTG2) gene. Histological reassessment showed abnormal muscularis propria and smooth muscle actin, with the same findings in sibling, confirming familial visceral myopathy. Thus, noninvasive genomic analysis can provide early and specific diagnosis of familial visceral myopathy, which may help to avoid inappropriate surgery.

Methods, Table e1 and Figures e2, e5, References 10–20