Polysomnographic findings in infantile Pompe disease.

Journal Article (Journal Article)

Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to months of life in patients with classic infantile Pompe disease. Progression of the disease often leads to respiratory failure. Although sleep apnea is reported in late-onset Pompe disease, sleep pathology is not well characterized in infantile disease. In this retrospective study, we analyzed nocturnal polysomnography results from 17 patients with infantile-onset Pompe disease. Obstructive sleep apnea and hypoventilation were common among this cohort, even in those that did not have symptoms of sleep-disordered breathing. All patients with infantile-onset Pompe disease should undergo polysomnography as a routine part of their care.

Full Text

Duke Authors

Cited Authors

  • Kansagra, S; Austin, S; DeArmey, S; Kishnani, PS; Kravitz, RM

Published Date

  • December 2013

Published In

Volume / Issue

  • 161A / 12

Start / End Page

  • 3196 - 3200

PubMed ID

  • 24123966

Electronic International Standard Serial Number (EISSN)

  • 1552-4833

Digital Object Identifier (DOI)

  • 10.1002/ajmg.a.36227


  • eng

Conference Location

  • United States