期刊
INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY
卷 27, 期 1, 页码 77-83出版社
SAGE PUBLICATIONS INC
DOI: 10.1177/1066896918786586
关键词
ACTG2; actin gamma 2; chronic intestinal pseudoobstruction; choledochal cyst; CIPO; hypertrophic pyloric stenosis; visceral myopathy
资金
- UT Southwestern Medical Center Physician Scientist Oncology Training Program (NCI/NIH) [5T32CA136515-07]
- NIH [R01GM098543]
- Robert A. Welch Foundation [I-1908]
- John Lawrence and Patsy Louise Goforth Chair in Pathology
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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