title: Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.
abstract: To describe muscle involvement on whole-body MRI scans in adult patients at different stages of late-onset Pompe disease. Twenty patients aged 37 to 75 were examined. Five were bedridden and required ventilatory support. Axial and coronal T1 turbo-spin-echo sequences were performed on 1.5T or 3T systems. MRI was scored for 47 muscles using Mercuri's classification. Whole-body scans were obtained with a mean in-room time of 29 min. Muscle changes consisted of internal bright signals of fatty replacement without severe retraction of the muscles' corpus. Findings were consistent with previous descriptions of spine extensors and pelvic girdle, but also provided new information on recurrent muscle changes particularly in the tongue and subscapularis muscle. Moreover thigh involvement was more heterogeneous than previously described, in terms of distribution across muscles as well as with respect to the overall clinical presentation. Whole-body MRI provides a very evocative description of muscle involvement in Pompe disease in adults.
authors.affiliation: Service de Radiologie, Hôpital Raymond Poincaré, 104 boulevard Raymond Poincaré, Garches, France. robert.carlier@rpc.aphp.fr
authors.forename: Robert-Yves
authors.initials: RY
authors.lastname: Carlier
authors.forename: Pascal
authors.initials: P
authors.lastname: Laforet
authors.forename: Claire
authors.initials: C
authors.lastname: Wary
authors.forename: Dominique
authors.initials: D
authors.lastname: Mompoint
authors.forename: Kenza
authors.initials: K
authors.lastname: Laloui
authors.forename: Nadine
authors.initials: N
authors.lastname: Pellegrini
authors.forename: Djillali
authors.initials: D
authors.lastname: Annane
authors.forename: Pierre G
authors.initials: PG
authors.lastname: Carlier
authors.forename: David
authors.initials: D
authors.lastname: Orlikowski
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology; D006801:Humans; D007091:Image Processing, Computer-Assisted; D008137:Longitudinal Studies; D008168:Lung / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009043:Motor Activity / Q000502:physiology; D018482:Muscle, Skeletal / Q000473:pathology*; D012132:Respiratory Muscles / Q000503:physiopathology; D012720:Severity of Illness Index; D051598:Whole Body Imaging / Q000379:methods