title: Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease).
abstract: Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy. Background slowing and reduction in spindle activity on limited EEG may reflect progressive CNS disease affecting thalamic neurons.
authors.affiliation: Department of Pediatrics, Division of Pulmonology, Brody School of Medicine at East Carolina University, Greenville, NC.
authors.forename: William I
authors.initials: WI
authors.lastname: Wooten
authors.affiliation: Department of Pediatrics, Division of Pulmonology, University of North Carolina at Chapel Hill.
authors.forename: Marianne S
authors.initials: MS
authors.lastname: Muhlebach
authors.affiliation: Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina at Chapel Hill.
authors.forename: Joseph
authors.initials: J
authors.lastname: Muenzer
authors.affiliation: Department of Pediatrics, Division of Pulmonology, University of North Carolina at Chapel Hill.
authors.forename: Ceila E
authors.initials: CE
authors.lastname: Loughlin
authors.affiliation: Department of Neurology, Division of Sleep Medicine, University of North Carolina at Chapel Hill.
authors.forename: Bradley V
authors.initials: BV
authors.lastname: Vaughn
mesh_terms: D000293:Adolescent; D018450:Disease Progression; D006801:Humans; D008297:Male; D009081:Mucolipidoses / Q000150:complications* / Q000503:physiopathology; D017286:Polysomnography / Q000706:statistics & numerical data; D020181:Sleep Apnea, Obstructive / Q000150:complications* / Q000503:physiopathology
keywords: I-cell disease; hypoventilation; lysosomal storage disorder; mucolipidosis; non-invasive ventilation; obstructive sleep apnea; polysomnography; sleep architecture