title: Polysomnographic findings in infantile Pompe disease.
abstract: 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.
authors.affiliation: Division of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.
authors.forename: Sujay
authors.initials: S
authors.lastname: Kansagra
authors.forename: Stephanie
authors.initials: S
authors.lastname: Austin
authors.forename: Stephanie
authors.initials: S
authors.lastname: DeArmey
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
authors.forename: Richard M
authors.initials: RM
authors.lastname: Kravitz
mesh_terms: D005260:Female; D006003:Glycogen / Q000378:metabolism; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007040:Hypoventilation / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D007231:Infant, Newborn; D008247:Lysosomes / Q000378:metabolism; D008297:Male; D017286:Polysomnography; D059748:Proteolysis; D012891:Sleep Apnea Syndromes / Q000235:genetics* / Q000503:physiopathology
chemical_list: D006003:Glycogen
keywords: infantile Pompe disease; nocturnal hypoventilation; obstructive sleep apnea; sleep-disordered breathing