Lung MRI and impairment of diaphragmatic function in Pompe diseaseReport as inadecuate

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BMC Pulmonary Medicine

, 15:54

Infectious, Rare and Idiopathic Pulmonary Diseases


BackgroundPompe disease is a progressive metabolic myopathy. Involvement of respiratory muscles leads to progressive pulmonary dysfunction, particularly in supine position. Diaphragmatic weakness is considered to be the most important component. Standard spirometry is to some extent indicative but provides too little insight into diaphragmatic dynamics. We used lung MRI to study diaphragmatic and chest-wall movements in Pompe disease.

MethodsIn ten adult Pompe patients and six volunteers, we acquired two static spirometer-controlled MRI scans during maximum inspiration and expiration. Images were manually segmented. After normalization for lung size, changes in lung dimensions between inspiration and expiration were used for analysis; normalization was based on the cranial-caudal length ratio representing vertical diaphragmatic displacement, and the anterior-posterior and left-right length ratios representing chest-wall movements due to thoracic muscles.

ResultsWe observed striking dysfunction of the diaphragm in Pompe patients; in some patients the diaphragm did not show any displacement. Patients had smaller cranial-caudal length ratios than volunteers p < 0.001, indicating diaphragmatic weakness. This variable strongly correlated with forced vital capacity in supine position r = 0.88 and postural drop r = 0.89. While anterior-posterior length ratios also differed between patients and volunteers p = 0.04, left-right length ratios did not p = 0.1.

ConclusionsMRI is an innovative tool to visualize diaphragmatic dynamics in Pompe patients and to study chest-walland diaphragmatic movements in more detail. Our data indicate that diaphragmatic displacement may be severely disturbed in patients with Pompe disease.

KeywordsPompe disease Glycogen storage disease type II Lysosomal storage disorder MRI Diaphragm Pulmonary function Spirometry AbbreviationsΔFVCPostural drop in forced vital capacity from sitting to supine position

BMIBody mass index

ERTEnzyme replacement therapy

FVCForced vital capacity

FEV1Forced expiratory volume in one second

MIPMaximum static inspiratory pressure

MEPMaximum static expiratory pressure

MRIMagnetic resonance imaging

PFTPulmonary function test

PFTPulmonary function test

Electronic supplementary materialThe online version of this article doi:10.1186-s12890-015-0058-3 contains supplementary material, which is available to authorized users.

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Author: Stephan CA Wens - Pierluigi Ciet - Adria Perez-Rovira - Karla Logie - Elizabeth Salamon - Piotr Wielopolski - Marleen de B


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