TY - JOUR T1 - Retrospective analysis of sleep breathing disorders in mucopolysaccharidosis type IVA JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.congress-2018.PA4590 VL - 52 IS - suppl 62 SP - PA4590 AU - Giulia Facchina AU - Alessandro Amaddeo AU - Sonia Khirani AU - Genevieve Baujat AU - Syril James AU - Sylvain Breton AU - Brigitte Fauroux Y1 - 2018/09/15 UR - http://erj.ersjournals.com/content/52/suppl_62/PA4590.abstract N2 - Background: Data on sleep disordered breathing in patients with mucopolysaccharidosis type IVA (Morquio A), an autosomal recessive lysosomal storage disease, are scarce.Aim: The aim of the present study was to analyse sleep characteristics of Morquio A syndrome.Patients: We retrospectively analysed the clinical, sleep and radiological characteristics of 16 patients (age 5 to 25 years, 13 on enzyme replacement therapy (ERT)) with Morquio A followed at a national reference center.Results: Mean age at polygraphy was 10.5±4.2 years. Mean apnea hypopnea index (AHI) was 7.6±10.0/hour with 11 patients having an AHI > 1.5/h, 7 an AHI > 5/h and 4 an AHI > 10/h. All AHI were obstructive with no central events and no association was observed between the AHI and instability/narrowing of atlantoaxial system or other cerebral MRI characteristics. AHI tended to increase with age. Six patients required noninvasive ventilation at a mean age of 16.0±4.8 years because of obstructive sleep apnea (OSA) in 4 patients, acute respiratory failure in 1 patient and severe alveolar hypoventilation without OSA following atlantoaxial subluxation in a last patient.Conclusion: OSA is common in older patients with Morquio A despite ERT and is possibly related to the ongoing accumulation of keratan sulfate and chondroitin-6-sulfate in the upper airways, tonsils and lungs and associated chest wall deformity.FootnotesCite this article as: European Respiratory Journal 2018 52: Suppl. 62, PA4590.This is an ERS International Congress abstract. No full-text version is available. Further material to accompany this abstract may be available at www.ers-education.org (ERS member access only). ER -