title: Clinical and pathophysiological clues of respiratory dysfunction in late-onset Pompe disease: New insights from a comparative study by MRI and respiratory function assessment.
abstract: Respiratory insufficiency commonly develops in patients with Late Onset Pompe Disease (LOPD). It is conceivable that a timely starting of enzyme replacement therapy could avoid this life-threatening complication. Respiratory function in LOPD is commonly evaluated with standard pulmonary tests which do not extensively provide an accurate definition of the muscular pathophysiology. In eleven patients with LOPD and five healthy subjects, we compared pulmonary function results with MRI data, based on scans of the right lung acquired on maximum expiration and inspiration. We observed that variations in the cranio-caudal lung height and of lung areas in inspiration and expiration (lung delta) as well as the area of diaphragmatic movement strongly correlated with pulmonary function results. Moreover, MRI data confirmed that development of respiratory insufficiency in LOPD is mainly due to the diaphragmatic weakness with sparing of the antero-posterior chest expansion related to the activity of the intercostal muscles. These results suggest that respiratory muscle MRI is a quick, useful and reproducible tool for patient management as well as a reliable outcome measure for future LOPD therapeutic trials.
authors.affiliation: Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, Messina, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Gaeta
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy. Electronic address: omusumeci@unime.it.
authors.forename: Olimpia
authors.initials: O
authors.lastname: Musumeci
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: Stefania
authors.initials: S
authors.lastname: Mondello
authors.affiliation: Department of Specialist Medical-Surgical Experimental Sciences and Odontostomatology, University of Messina, Messina, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Ruggeri
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: Federica
authors.initials: F
authors.lastname: Montagnese
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Cucinotta
authors.affiliation: Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, Messina, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Vinci
authors.affiliation: Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, Messina, Italy.
authors.forename: Demetrio
authors.initials: D
authors.lastname: Milardi
authors.affiliation: Department of Neurosciences, University of Messina, Messina, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Toscano
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D012129:Respiratory Function Tests; D012131:Respiratory Insufficiency / Q000473:pathology* / Q000503:physiopathology*; D012132:Respiratory Muscles / Q000473:pathology / Q000503:physiopathology
keywords: Diaphragm; Pompe disease; Respiratory muscles MRI