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Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function.
Mol Genet Metab 2013; 110(3):290-6MG

Abstract

Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were studied: 6 with a limb-girdle muscle weakness, 1 with myalgias, 2 with exertional dyspnoea and 1 with isolated hyperckemia. Respiratory function was measured using forced vital capacity (FVC) in both upright and supine positions, maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP) and peak cough flow (PCF) tests. The involvement (atrophy) of diaphragms, abdominal respiratory muscles and intercostal muscles was ranked by CT and MRI examinations using appropriate scales. Height of lungs and band-like atelectasis presence were also recorded. Seven out of 10 patients showed a functional diaphragmatic weakness (FVC drop percentage >25%). In 8 out of 10 patients, involvement of both diaphragms and of other respiratory muscles was seen. The mean height of lungs in patients was significantly reduced when compared to a control group. Marked elevation of the diaphragms (lung height < 15 cm) was also seen in 6 patients. Multiple unilateral or bilateral band-like atelectasis were found in 4 patients. Statistically significant correlations were found between diaphragm atrophy grading, evaluated by MRI and CT, and FVC in supine position, FVC drop percentage passing from upright to supine position, PCF and MIP. Our data showed that diaphragm atrophy, often associated to reduced lung height and band-like atelectasis, can be considered the CT-MRI hallmark of respiratory insufficiency in LOPD patients. Early recognition of respiratory muscles involvement, using imaging data, could allow an early start of enzyme replacement therapy (ERT) in LOPD.

Authors+Show Affiliations

Department of Biomedical Sciences and of Morphologic and Functional Images, University of Messina, AOU "Policlinico G. Martino", Via Consolare Valeria 1, 98125 Messina, Italy. Electronic address: gaesam@hotmail.it.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

23916420

Citation

Gaeta, Michele, et al. "Late-onset Pompe Disease (LOPD): Correlations Between Respiratory Muscles CT and MRI Features and Pulmonary Function." Molecular Genetics and Metabolism, vol. 110, no. 3, 2013, pp. 290-6.
Gaeta M, Barca E, Ruggeri P, et al. Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Mol Genet Metab. 2013;110(3):290-6.
Gaeta, M., Barca, E., Ruggeri, P., Minutoli, F., Rodolico, C., Mazziotti, S., ... Toscano, A. (2013). Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. Molecular Genetics and Metabolism, 110(3), pp. 290-6. doi:10.1016/j.ymgme.2013.06.023.
Gaeta M, et al. Late-onset Pompe Disease (LOPD): Correlations Between Respiratory Muscles CT and MRI Features and Pulmonary Function. Mol Genet Metab. 2013;110(3):290-6. PubMed PMID: 23916420.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Late-onset Pompe disease (LOPD): correlations between respiratory muscles CT and MRI features and pulmonary function. AU - Gaeta,Michele, AU - Barca,Emanuele, AU - Ruggeri,Paolo, AU - Minutoli,Fabio, AU - Rodolico,Carmelo, AU - Mazziotti,Silvio, AU - Milardi,Demetrio, AU - Musumeci,Olimpia, AU - Toscano,Antonio, Y1 - 2013/07/09/ PY - 2013/05/08/received PY - 2013/06/27/revised PY - 2013/06/27/accepted PY - 2013/8/7/entrez PY - 2013/8/7/pubmed PY - 2014/5/9/medline KW - Computed tomography KW - LOPD KW - Magnetic Resonance Imaging KW - Pompe disease KW - Pulmonary function KW - Respiratory muscles SP - 290 EP - 6 JF - Molecular genetics and metabolism JO - Mol. Genet. Metab. VL - 110 IS - 3 N2 - Late onset Pompe disease (LOPD) is a rare muscle disorder often characterized, along the disease course, by severe respiratory failure. We describe herein respiratory muscles and lung abnormalities in LOPD patients using MR imaging and CT examinations correlated to pulmonary function tests. Ten LOPD patients were studied: 6 with a limb-girdle muscle weakness, 1 with myalgias, 2 with exertional dyspnoea and 1 with isolated hyperckemia. Respiratory function was measured using forced vital capacity (FVC) in both upright and supine positions, maximal inspiratory pressure (MIP), maximal expiratory pressure (MEP) and peak cough flow (PCF) tests. The involvement (atrophy) of diaphragms, abdominal respiratory muscles and intercostal muscles was ranked by CT and MRI examinations using appropriate scales. Height of lungs and band-like atelectasis presence were also recorded. Seven out of 10 patients showed a functional diaphragmatic weakness (FVC drop percentage >25%). In 8 out of 10 patients, involvement of both diaphragms and of other respiratory muscles was seen. The mean height of lungs in patients was significantly reduced when compared to a control group. Marked elevation of the diaphragms (lung height < 15 cm) was also seen in 6 patients. Multiple unilateral or bilateral band-like atelectasis were found in 4 patients. Statistically significant correlations were found between diaphragm atrophy grading, evaluated by MRI and CT, and FVC in supine position, FVC drop percentage passing from upright to supine position, PCF and MIP. Our data showed that diaphragm atrophy, often associated to reduced lung height and band-like atelectasis, can be considered the CT-MRI hallmark of respiratory insufficiency in LOPD patients. Early recognition of respiratory muscles involvement, using imaging data, could allow an early start of enzyme replacement therapy (ERT) in LOPD. SN - 1096-7206 UR - https://www.unboundmedicine.com/medline/citation/23916420/Late_onset_Pompe_disease__LOPD_:_correlations_between_respiratory_muscles_CT_and_MRI_features_and_pulmonary_function_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1096-7192(13)00225-4 DB - PRIME DP - Unbound Medicine ER -