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

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2 Scopus citations

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 languageEnglish (US)
Pages (from-to)77-83
Number of pages7
JournalInternational Journal of Surgical Pathology
Volume27
Issue number1
DOIs
StatePublished - 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

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