title: Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.
abstract: 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.
authors.affiliation: Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. khoon.tan@duke.edu
authors.forename: Queenie K-G
authors.initials: QK
authors.lastname: Tan
authors.forename: Sue Mei
authors.initials: SM
authors.lastname: Cheah
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Dearmey
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D001003:Anal Canal / Q000503:physiopathology*; D002675:Child, Preschool; D056947:Enzyme Replacement Therapy; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000235:genetics / Q000628:therapy; D006801:Humans; D007223:Infant; D009123:Muscle Hypotonia / Q000209:etiology*