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Pulmonary involvement by Niemann-Pick disease. A report of six cases.

Abstract : AIMS: Although pulmonary involvement is a known cause of morbidity in Niemann-Pick disease, histological features in the lung are not well characterized. The purpose of this study is to document the histological features seen in pulmonary involvement by types B and C Niemann-Pick disease and to correlate them with clinical and imaging data. METHODS AND RESULTS: Surgical lung biopsies from six patients (four with type B and two with type C disease) were reviewed and all showed diffuse endogenous lipid pneumonia, with lesser involvement of the interstitium by fibrosis and foamy macrophage accumulation. In type B disease only, there was also fine cytoplasmic vacuolation within the cytoplasm of ciliated epithelial cells. Neither disease showed foamy changes within pneumocytes. One patient had a bronchial cast removed on whole lung lavage. Electron microscopy showed abnormal lamellar inclusions within lysosomes of affected cells in type B disease. In patients with type C disease, biopsies were undertaken as part of investigations into acute respiratory failure in the context of multiorgan systemic presentation. Three patients with type B disease had clinical disease limited to the lung, all adults (mean age of 40 years) with unexplained diffuse parenchymal lung disease and mainly ground-glass shadowing on high-resolution computed tomography. CONCLUSIONS: Niemann-Pick disease should be considered for any patient with unexplained diffuse endogenous lipid pneumonia, even when disease is limited to the lungs and presentation is during adulthood.
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Contributor : Danielle Salas <>
Submitted on : Monday, October 1, 2007 - 12:46:57 PM
Last modification on : Thursday, August 27, 2020 - 11:36:03 AM

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Andrew Nicholson, Richard Florio, David Hansell, Roland Bois, Athol Wells, et al.. Pulmonary involvement by Niemann-Pick disease. A report of six cases.. Histopathology, Wiley, 2006, 48 (5), pp.596-603. ⟨10.1111/j.1365-2559.2006.02355.x⟩. ⟨inserm-00175785⟩



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