Published online before print November 22, 2005, 10.1148/radiol.2381041696
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).
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Figure 1: Representative unenhanced transverse CT scan of midlung zones in 16-year-old boy shows severe interstitial changes. Note the presence of ground-glass opacities and the intermixed thickened interlobular septa and intralobular lines in some areas; these findings are suggestive of the "crazy paving" sign. Results of pulmonary function testing were normal, which demonstrates that the radiographic findings do not always correspond to the clinical state.
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Figure 2: Unenhanced transverse CT scan of lower lung zones in 12-year-old boy shows severe thickening of the interlobular septa and intralobular interstitium.
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Figure 3: Unenhanced transverse CT scan in 48-year-old man shows moderate changes in the midlung zone. Note that some areas of ground-glass opacity (arrows) are intermixed with areas of predominantly interlobular septal thickening.
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Figure 4: Unenhanced transverse CT scan in 28-year-old woman. Mild ground-glass opacity (arrows) is seen relatively anteriorly in the upper lung zones. In general, the changes in the upper lung zones were milder in degree than those in the middle and lower lung zones.
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Figure 5: Graph shows relationship between interstitial lung disease (ILD) score at thin-section CT (HRCT) and age. The correlation between interstitial lung disease score and age was not significant (r = –0.055, P = .696).
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Figure 6: Graph shows relationship between interstitial lung disease (ILD) score at thin-section CT (HRCT) and percentage of predicted DLCO. Although there was a trend toward a diminishment in the percentage of predicted DLCO as the interstitial lung disease score increased, the correlation between these two measures was not strong (r = –0.385, P = .011). Several patients had disparate results.
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Copyright © 2005 by the Radiological Society of North America.
