关键词： ACTG2 CIPO actin gamma 2 choledochal cyst chronic intestinal pseudoobstruction hypertrophic pyloric stenosis visceral myopathy

Mesh ： Actins / genetics Child Choledochal Cyst / genetics Humans Intestinal Pseudo-Obstruction / complications genetics Intestines / abnormalities Male Mutation, Missense Pyloric Stenosis, Hypertrophic / genetics

来  源：   DOI：10.1177/1066896918786586   PDF(Sci-hub)   PDF(Pubmed)

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.
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