ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation. (February 2019)

• Record Type: Journal Article
• Authors: Collins, Rebecca R. J.; Barth, Bradley; Megison, Stephen; Pfeifer, Cory M.; Rice, Luke M.; Harris, Samar; Timmons, Charles F.; Rakheja, Dinesh
• Is Part Of: International journal of surgical pathology. Volume 27:Number 1(2019)
• Page Start: 77
• Page End: 83
• Publication Date: 2019-02
• Subjects: ACTG2 -- actin gamma 2 -- chronic intestinal pseudoobstruction -- choledochal cyst -- CIPO -- hypertrophic pyloric stenosis -- visceral myopathy; Pathology, Surgical -- Periodicals; 617.07
• DOI: 10.1177/1066896918786586
• Languages: English
• ISSNs: 1066-8969

Abstract

Primary visceral myopathy caused by a pathogenic mutation in the gene encoding the enteric smooth muscle actin gamma 2 ( ACTG2 ) affects gastrointestinal and genitourinary tracts and often presents as chronic intestinal pseudoobstruction. We present a case of pediatric onset chronic intestinal pseudoobstruction associated with a novel missense ACTG2 mutation c.439G>T/p.G147C. In addition to the known disease manifestations of feeding intolerance and intestinal malrotation, our patient had a late-onset hypertrophic pyloric stenosis and a late-onset choledochal cyst, the former of which has not previously been described in patients with ACTG2 -associated visceral myopathy.