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.
| Original language | English |
|---|---|
| Pages (from-to) | 290-296 |
| Number of pages | 7 |
| Journal | Molecular Genetics and Metabolism |
| Volume | 110 |
| Issue number | 3 |
| DOIs | |
| Publication status | Published - Nov 2013 |
Fingerprint
Keywords
- Computed tomography
- LOPD
- Magnetic Resonance Imaging
- Pompe disease
- Pulmonary function
- Respiratory muscles
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Genetics
- Endocrinology
- Endocrinology, Diabetes and Metabolism
Cite this
Late-onset Pompe disease (LOPD) : Correlations between respiratory muscles CT and MRI features and pulmonary function. / Gaeta, Michele; Barca, Emanuele; Ruggeri, Paolo; Minutoli, Fabio; Rodolico, Carmelo; Mazziotti, Silvio; Milardi, Demetrio; Musumeci, Olimpia; Toscano, Antonio.
In: Molecular Genetics and Metabolism, Vol. 110, No. 3, 11.2013, p. 290-296.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Late-onset Pompe disease (LOPD)
T2 - 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
PY - 2013/11
Y1 - 2013/11
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.
AB - 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.
KW - Computed tomography
KW - LOPD
KW - Magnetic Resonance Imaging
KW - Pompe disease
KW - Pulmonary function
KW - Respiratory muscles
UR - http://www.scopus.com/inward/record.url?scp=84885429147&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84885429147&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2013.06.023
DO - 10.1016/j.ymgme.2013.06.023
M3 - Article
VL - 110
SP - 290
EP - 296
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
SN - 1096-7192
IS - 3
ER -