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- William I Wooten, Marianne S Muhlebach, Joseph Muenzer, Ceila E Loughlin, and Bradley V Vaughn.
- Department of Pediatrics, Division of Pulmonology, Brody School of Medicine at East Carolina University, Greenville, NC.
- J Clin Sleep Med. 2016 Dec 15; 12 (12): 1695-1696.
AbstractMucolipidosis 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.© 2016 American Academy of Sleep Medicine
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