Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.
Journal Article (Journal Article)
Pompe Disease (PD) is a lysosomal storage disease caused by acid α-glucosidase deficiency. The infantile form typically results in death in the first year of life. Patient survival has improved with enzyme replacement therapy (ERT), but new complications are being recognized. We report three cases of infantile onset PD on ERT who present with a new finding of poor anal tone, a finding that requires special attention for further complications such as rectal prolapse.
Full Text
Duke Authors
Cited Authors
- Tan, QK-G; Cheah, SM; Dearmey, SM; Kishnani, PS
Published Date
- February 2013
Published In
Volume / Issue
- 108 / 2
Start / End Page
- 142 - 144
PubMed ID
- 23266370
Electronic International Standard Serial Number (EISSN)
- 1096-7206
Digital Object Identifier (DOI)
- 10.1016/j.ymgme.2012.11.013
Language
- eng
Conference Location
- United States