• Laurence Tabone, Catherine Caillaud, Alessandro Amaddeo, Sonia Khirani, Caroline Michot, Vincent Couloigner, Anais Brassier, Valerie Cormier-Daire, Geneviève Baujat, and Brigitte Fauroux.
• Research Unit INSERM U 955 Team 13, Créteil, France.
• Am. J. Med. Genet. A. 2019 Jul 1; 179 (7): 1196-1204.

AbstractMucolipidosis (ML) is a rare lysosomal storage disorder with a wide spectrum of disease severity according to the type. Sleep-disordered breathing is recognized as a characteristic feature of ML but objective data are scarce. The aim of the study was to describe sleep data and medical management in children with ML α/β. All patients with ML α/β followed at a national reference center of ML were included. Five patients had ML II, one patient had ML III and one patient had ML II-III. One patient was started on noninvasive ventilation (NIV) to allow extubation after prolonged invasive mechanical ventilation. The six other patients underwent sleep study at a median age of 1.8 years (range 4 months-17.4 years). Obstructive sleep apnea (OSA) was observed in all patients with a median apnea-hypopnea index (AHI) of 36 events/hr (range 5-52) requiring continuous positive airway pressure (CPAP) or NIV. CPAP/NIV resulted in an improvement of nocturnal gas exchange and was continued in all patients with an excellent compliance. Two patients died. Systematic sleep studies are recommended at time of diagnosis in ML. CPAP or NIV are effective treatments of OSA, well tolerated, and may contribute to improve the quality of life of patients and caregivers.© 2019 Wiley Periodicals, Inc.

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