JIMD Reports, Volume 29

Pereira, Denise Rotta Ruttkay, Schweiger, Claudia, de Souza, Carolina F, Fagondes, Simone, Manica, Denise, Giugliani, Roberto, Kuhl, Gabriel, Marostica, Paulo J C, Denise Rotta Ruttkay Pereira, Claudia Schweiger, Carolina F. de Souza, Simone Fagondes, Denise Manica, Roberto Giugliani, Gabriel Kuhl, Paulo J. C. Marostica, de Souza, Carolina F., Marostica, Paulo J. C.

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.