%0 Journal Article
%T ACTG2
%A Bradley Barth
%A Charles F. Timmons
%A Cory M. Pfeifer
%A Dinesh Rakheja
%A Luke M. Rice
%A Rebecca R. J. Collins
%A Samar Harris
%A Stephen Megison
%J International Journal of Surgical Pathology
%@ 1940-2465
%D 2019
%R 10.1177/1066896918786586
%X 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
%K ACTG2
%K actin gamma 2
%K chronic intestinal pseudoobstruction
%K choledochal cyst
%K CIPO
%K hypertrophic pyloric stenosis
%K visceral myopathy
%U https://journals.sagepub.com/doi/full/10.1177/1066896918786586