Abstract:
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Purpose: Neimann-Pick disease Type B (NPD-B) is a lysosomal storage disorder
resulting from deficient acid sphingomyelinase activity and the accumulation of
syphingomyelin, primarily in tissues of the reticuloendothelial system. We
evaluated the morphologic changes in the chest as they present on CXR and CT in
a large cohort of patients to better define extent of disease.
Methods and Materials: Fifty four patients with NPD-B were evaluated in a
multicenter, multinational survey study to optimize the design of future
clinical trials of enzyme replacement therapy. Each subject underwent a CXR,
high resolution thin section chest CT, and a CT of the abdomen and part of the
pelvis to obtain liver and spleen volumes. The CT examinations of the chest
were initially limited exams with 1 mm sections performed at the level of the
aortic arch, the carina, halfway between the carina and 1 cm above the higher
hemidiaphragm, and 1 cm above the higher hemidiaphragm. Each level was analyzed
on both the right and left for a total of 8 zones. We have performed follow-up
CTs in 13 patients at the Mount Sinai School of Medicine. These were performed
as full multislice CTs of the chest with 1 mm collimation and reconstruction at
1mm intervals.
Results: CXR revealed interstitial disease in 48 patients, characterized as
severe in 25. Six patients demonstrated pulmonary nodules, one of which was
calcified on plain film. Six patients had pleural disease and two demonstrated
changes suggestive of pulmonary hypertension. Twenty patients had diminished
lung volumes though it was not clear if this was caused by pulmonary disease or
abdominal organomegaly. High resolution CT demonstrated interstitial disease in
49 subjects, characterized as severe in 30. Most patients demonstrated an admixture
of reticulonodular changes and regions of ground glass density. All lung zones
were involved with slight sparing of the upper lung fields. In the limited
group with follow up multislice CTs, 9 of 13 patients demonstrated frank
nodules of varying size (3 mm- 2.4 cm), the majority of which were calcified.
Also noted were numerous calicifications in multiple abdominal organs, and the
coronary arteries.
Conclusion: Patients with NPD-B have significant lung involement including
interstitial disease and frank nodules. Many findings are apparent on CXR, but
added information is gained with thin section CT of the chest.
(R.J.D. is a consultant for and has received grant support from Genzyme.)
Questions about this event email: david.mendelson@msnyuhealth.org
Mendelson MD, D,
Chest Radiograph and High Resolution CT Findings in a Cohort of Patients with Niemann-Pick Disease Type B (NPD-B). Radiological Society of North America 2003 Scientific Assembly and Annual Meeting, November 30 - December 5, 2003 ,Chicago IL.
http://archive.rsna.org/2003/3100433.html
