Progression of Polysomnographic Abnormalities in Mucolipidosis II (I-Cell Disease)
| Autor: | William I. Wooten, Joseph Muenzer, Marianne S. Muhlebach, Ceila E. Loughlin, Bradley V. Vaughn |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Pulmonary and Respiratory Medicine Pathology medicine.medical_specialty Adolescent Polysomnography Case Reports Disease 03 medical and health sciences 0302 clinical medicine Mucolipidoses medicine Humans Inclusion cell Sleep Apnea Obstructive medicine.diagnostic_test Mucolipidosis business.industry Sleep architecture medicine.disease Hypoventilation Obstructive sleep apnea 030104 developmental biology Neurology Disease Progression Neurology (clinical) I-cell disease medicine.symptom business 030217 neurology & neurosurgery |
| DOI: | 10.17615/30gt-5556 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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