title: Type B Niemann-Pick disease: findings at chest radiography, thin-section CT, and pulmonary function testing.
abstract: OBJECTIVE
  To evaluate findings at radiography, computed tomography (CT), and pulmonary function testing in patients with type B Niemann-Pick disease.
  
  
  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 score 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.
authors.affiliation: Dept of Radiology, Mount Sinai School of Medicine, One Gustave L. Levy Place, New York, NY 10029, USA. david.mendelson@mountsinai.org
authors.forename: David S
authors.initials: DS
authors.lastname: Mendelson
authors.forename: Melissa P
authors.initials: MP
authors.lastname: Wasserstein
authors.forename: Robert J
authors.initials: RJ
authors.lastname: Desnick
authors.forename: Ronald
authors.initials: R
authors.lastname: Glass
authors.forename: William
authors.initials: W
authors.lastname: Simpson
authors.forename: Gwen
authors.initials: G
authors.lastname: Skloot
authors.forename: Marie
authors.initials: M
authors.lastname: Vanier
authors.forename: Bruno
authors.initials: B
authors.lastname: Bembi
authors.forename: Roberto
authors.initials: R
authors.lastname: Giugliani
authors.forename: Eugen
authors.initials: E
authors.lastname: Mengel
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Cox
authors.forename: Margaret M
authors.initials: MM
authors.lastname: McGovern
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D008297:Male; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000000981:diagnostic imaging* / Q000503:physiopathology*; D013902:Radiography, Thoracic / Q000379:methods*; D012129:Respiratory Function Tests; D018709:Statistics, Nonparametric; D014057:Tomography, X-Ray Computed