{Reference Type}: Case Reports
{Title}: ACTG2-Associated Visceral Myopathy With Chronic Intestinal Pseudoobstruction, Intestinal Malrotation, Hypertrophic Pyloric Stenosis, Choledochal Cyst, and a Novel Missense Mutation.
{Author}: Collins RRJ;Barth B;Megison S;Pfeifer CM;Rice LM;Harris S;Timmons CF;Rakheja D;
{Journal}: Int J Surg Pathol
{Volume}: 27
{Issue}: 1
{Year}: Feb 2019
{Factor}: 1.358
{DOI}: 10.1177/1066896918786586
{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.