title: Longitudinal polysomnographic findings in infantile Pompe disease.
abstract: Infantile Pompe disease is a rare, metabolic disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. The deficiency leads to multisystem dysfunction. Neuromuscular weakness due to metabolic myopathy is present, which predisposes children to sleep-disordered breathing. With the advent of enzyme replacement therapy (ERT), children are living longer, and there is a new natural history that is emerging. In a prior paper on our cohort of infantile Pompe disease patients, we reported a high incidence of both hypoventilation and obstructive sleep apnea (OSA). In this retrospective study, we analyzed longitudinal nocturnal polysomnography results from 10 patients with infantile-onset Pompe disease, all of which were on enzyme replacement therapy for a mean of 34.9 months at the time of follow-up study. Patients demonstrated relative stability in sleep disordered breathing, with a trend towards improvement in both OSA and central sleep apnea. ERT may help in the treatment of sleep apnea in this cohort.
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: Zoheb
authors.initials: Z
authors.lastname: Kazi
authors.forename: Richard M
authors.initials: RM
authors.lastname: Kravitz
authors.forename: Priya S
authors.initials: PS
authors.lastname: Kishnani
mesh_terms: D056947:Enzyme Replacement Therapy; D005260:Female; D005087:Glucan 1,4-alpha-Glucosidase / Q000627:therapeutic use; D006009:Glycogen Storage Disease Type II / Q000188:drug therapy / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008297:Male; D017286:Polysomnography; D012189:Retrospective Studies; D012891:Sleep Apnea Syndromes / Q000188:drug therapy; D016896:Treatment Outcome
chemical_list: D005087:Glucan 1,4-alpha-Glucosidase
keywords: infantile Pompe disease; nocturnal hypoventilation; obstructive sleep apnea; sleep-disordered breathing