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.
Original language | English (US) |
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Pages (from-to) | 77-83 |
Number of pages | 7 |
Journal | International Journal of Surgical Pathology |
Volume | 27 |
Issue number | 1 |
DOIs | |
State | Published - Feb 1 2019 |
Keywords
- ACTG2
- CIPO
- actin gamma 2
- choledochal cyst
- chronic intestinal pseudoobstruction
- hypertrophic pyloric stenosis
- visceral myopathy
ASJC Scopus subject areas
- Anatomy
- Surgery
- Pathology and Forensic Medicine