Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section CT, and Pulmonary Function Testing

doi:10.1148/radiol.2381041696

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Thoracic Imaging

Type B Niemann-Pick Disease: Findings at Chest Radiography, Thin-Section CT, and Pulmonary Function Testing¹

David S. Mendelson, MD, Melissa P. Wasserstein, MD, Robert J. Desnick, PhD, MD, Ronald Glass, MD, William Simpson, MD, Gwen Skloot, MD, Marie Vanier, MD, Bruno Bembi, MD, Roberto Giugliani, MD, Eugen Mengel, MD, Gerald F. Cox, MD, PhD and Margaret M. McGovern, MD, PhD

¹ From the Dept of Radiology (D.S.M., R.G., W.S.), Depts of Human Genetics and Pediatrics (M.P.W., R.J.D., M.M.M.), and Div of Pulmonary, Critical Care and Sleep Medicine, Dept of Medicine (G.S.), Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029; Laboratoire Fondation Gillet-Merieux, Centre Hospitalier Lyon-Sud, Lyon, France (M.V.), Clinica Pediatrica, Istituto per l'Infanzia Burlo Garofolo, Trieste, Italy (B.B.); Medical Genetics Service, Hospital de Clinical de Porto Alegre, Porto Alegre, Brazil (R.G.); Pediatric Clinic, Univ of Mainz, Mainz, Germany (E.M.); and Dept of Clinical Research, Genzyme, Cambridge, Mass (G.F.C.). Received Oct 3, 2004; revision requested Dec 7; revision received Jan 24, 2005; accepted Feb 24; final version accepted Apr 1. Supported by Genzyme Corporation. The U.S. patients were examined at the Mount Sinai General Clinical Research Center, which is supported by grant 5 MO1 RR00071 from the National Center for Research Resources. M.P.W. is the recipient of Mentored Patient-Oriented Research Career Development Award K23 RR16052-01 from the NIH. Address correspondence to D.S.M. (e-mail: david.mendelson{at}mountsinai.org).

Purpose: To evaluate findings at radiography, computed tomography(CT), and pulmonary function testing in patients with type B Niemann-Pickdisease.

Materials and Methods: The study was approved by the institutionalreview board or ethics committee at each study site and was compliantwith HIPAA at the U.S. site. Written informed consent was obtainedfrom each patient or guardian and minor assent was obtained fromall children before any study-related procedures. Pulmonary involvementin 53 patients (27 male and 26 female patients; age range, 7–65years; mean age, 23.3 years) with type B Niemann-Pick disease wasevaluated with imaging and pulmonary function tests. All patientsunderwent chest radiography and thin-section CT, and images wereindependently 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 forthe degree of interstitial lung disease was derived at both radiographyand CT, and the CT scores were then compared with results of pulmonaryfunction testing and patient age by means of linear regression. CTscores were compared between the upper and lower lung zones by usingthe Wilcoxon signed rank test.

Results: Chest radiography and CT, respectively, revealed interstitiallung disease in 47 (90%) and 51 (98%) of the 52 patients who completedboth imaging examinations. There was a basilar predominance of interstitiallung disease at CT. Six patients had pulmonary nodules, one of whichwas calcified at chest radiography. There were no statistically significantcorrelations between interstitial lung disease score at CT and ageor percentage predicted FVC, FEV₁, or DLCO values.