Résumé :
|
Purpose. To describe muscle involvement on whole-body MRI scans in adult patients at different stages of late-onset Pompe disease.Materials and methods. 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 Lamminen-Mercuri classification.Results. Whole-body scans were obtained with a mean in-room time of 29 minutes. Muscle changes seen in T1 weighted sequences consisted essentially of fat replacement which manifests as bright signal, but without severe retraction of the muscle corpus. Although most facial muscles were spared, the tongue was heavily fatty infiltrated, independently of disease severity. Neck extensors were involved in all patients groups, but the other neck muscles were affected only in patients with more severe clinical disease. Scapular girdle muscle degenerative changes increased with disease progression. Subscapularis and anterior serratus were affected even in patients with mild clinical presentation. Trapezius and latissimus dorsi involvement was present only in patients with late stage disease. Involvement of trunk muscles was significant for all patients to the exception of intercostal muscles. Lumbar extensor and abdominal belt muscles were heavily altered in all subjects. Anterior and posterior compartments of arms and forearms were less affected and only in patients with severe disease. Pelvic girdle muscles were often fatty infiltrated, even in less severe patients. The adductor magnus was severely altered in all cases. In our patients' population, thigh lesions appeared to be very heterogeneous, both in terms of distribution across muscles and with respect to the overall clinical presentation. There was no predominance of changes in anterior or posterior compartment; however, the rectus femoris, gracilis and sartorius were the least involved muscles, and only in most severe patients. Muscle fatty degenerative changes of the legs were only present in non-ambulatory patients, predominantly in calves, but also in the tibialis anterior. Conclusion. Whole-body MRI provides a very evocative description of adult Pompe disease. Findings were consistent with previous descriptions of spine extensors and pelvic girdle involvement, but also provided new information on recurrent muscle changes particularly in the tongue and subscapularis muscle.
|