Abstract
This study aimed to compare flexible fiberoptic laryngoscopy (FFL) and polysomnography (PSG) findings in patients with mucopolysaccharidosis (MPS) type VI and to describe upper airway anatomical findings and abnormal PSG results in these patients. In this cross-sectional study, all MPS VI patients followed up at the genetic division of a hospital in southern Brazil were included. Overnight PSG was performed, and the results were classified as normal or mildly, moderately, or severely abnormal. FFL was performed between 7 days before and 7 days after PSG. FFL findings were classified as (1) no obstruction, (2) mild obstruction, (3) moderate obstruction, or (4) severe obstruction of the airways, using the highest score obtained in all the regions.
Eleven patients with MPS VI were included. FFL detected severe airway obstruction in eight (72.7%) patients, moderate obstruction in two (18.2%), and mild obstruction in one (9.1%). PSG revealed obstructive sleep apnea syndrome (OSAS) in nine (81.8%) patients. Among these, mild OSAS was observed in five (45.5%) patients, moderate OSAS in three (27.2%), and severe OSAS in one (9.1%). Moderate to severe hypertrophy of the nasal turbinates was found in 81.8% of the patients, and 64% had severe infiltration in the supraglottic region. There was no association between FFL and PSG findings (p = 0.454; κ = −0.09; 95%CI = −0.34 to 0.17), indicating no agreement between the two methods. In the present study, all patients with MPS showed some degree of airway obstruction. We suggest performing PSG in MPS patients to determine disease severity.
Competing interests: None declared
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Communicated by: Verena Peters
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Obstructive sleep apnea syndrome is frequently found in patients with mucopolysaccharidosis type VI and should be investigated with polysomnography.
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D.R.R.P., C.S., and D.M. were responsible for the design of the study and for data collection. D.R.R.P., C.S., and S.F. carried out the tests. G.K. and P.J.C.M. participated in the design of the study and performed the statistical analysis. C.F.S. and R. G. participated in its design and helped to draft the manuscript. D.R.R.P. was responsible for data analysis and interpretation and helped to draft the manuscript. All authors read and approved the final manuscript.
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Denise Rotta Ruttkay Pereira
Competing Interest Statement
Denise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina Fischinger de Souza, Simone Fagondes, Denise Manica, Roberto Giugliani, Gabriel Kuhl, and Paulo José Cauduro Marostica declare that they have no conflict of interest.
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The authors have no financial relationships relevant to this article to disclose.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000.
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Patients’ parents or legal representatives signed a consent form after being fully informed about the study.
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Pereira, D.R.R. et al. (2015). Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 29. JIMD Reports, vol 29. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_513
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DOI: https://doi.org/10.1007/8904_2015_513
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