Type B Niemann-Pick diseases: Findings at chest radiography, thin-section CT, and pulmonary function testing

Purpose: To evaluate findings at radiography, computed tomography (CT), and pulmonary function testing in patients with type B Niemann-Pick disease. Materials and Methods: The study was approved by the institutional review board or ethics committee at each study site and was compliant with HIPAA at the U.S. site. Written informed consent was obtained from each patient or guardian and minor assent was obtained from all children before any study-related procedures. Pulmonary involvement in 53 patients (27 male and 26 female patients; age range, 7-65 years; mean age, 23.3 years) with type B Niemann-Pick disease was evaluated with imaging and pulmonary function tests. All patients underwent chest radiography and thin-section CT, and images were independently interpreted by one of two radiologists. Spirometry (forced vital capacity [FVC] and forced expiratory volume in 1 second [FEV₁]) was performed and diffusing capacity of lung for carbon monoxide (DLCO) was evaluated in all patients who could comply. A score for the degree of interstitial lung disease was derived at both radiography and CT, and the CT scores were then compared with results of pulmonary function testing and patient age by means of linear regression. CT scores were compared between the upper and lower lung zones by using the Wilcoxon signed rank test. Results: Chest radiography and CT, respectively, revealed interstitial lung disease in 47 (90%) and 51 (98%) of the 52 patients who completed both imaging examinations. There was a basilar predominance of interstitial lung disease at CT. Six patients had pulmonary nodules, one of which was calcified at chest radiography. There were no statistically significant correlations between interstitial lung disease scorer at CT and age or percentage predicted FVC, FEV₁, or DLCO values. Conclusions: Although pulmonary function test indexes may be abnormal imaging findings do not necessarily correlate with pulmonary function in patients with type B Niemann-Pick disease.