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

Histopathology. 2006 Apr;48(5):596-603. doi: 10.1111/j.1365-2559.2006.02355.x.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Fatal Outcome
  • Female
  • Foam Cells / pathology
  • Foam Cells / ultrastructure
  • Humans
  • Lung / pathology*
  • Lung / ultrastructure
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Niemann-Pick Diseases / pathology*
  • Pneumonia / pathology
  • Pulmonary Fibrosis / pathology