title: Pulmonary involvement by Niemann-Pick disease. A report of six cases.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: Department of Histopathology, Royal Brompton Hospital, London, UK. a.nicholson@rbht.nhs.uk
authors.forename: A G
authors.initials: AG
authors.lastname: Nicholson
authors.forename: R
authors.initials: R
authors.lastname: Florio
authors.forename: D M
authors.initials: DM
authors.lastname: Hansell
authors.forename: R M
authors.initials: RM
authors.lastname: Bois
authors.forename: A U
authors.initials: AU
authors.lastname: Wells
authors.forename: P
authors.initials: P
authors.lastname: Hughes
authors.forename: H K
authors.initials: HK
authors.lastname: Ramadan
authors.forename: C I
authors.initials: CI
authors.lastname: Mackinlay
authors.forename: E
authors.initials: E
authors.lastname: Brambilla
authors.forename: G R
authors.initials: GR
authors.lastname: Ferretti
authors.forename: A
authors.initials: A
authors.lastname: Erichsen
authors.forename: M
authors.initials: M
authors.lastname: Malone
authors.forename: S
authors.initials: S
authors.lastname: Lantuejoul
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D005487:Foam Cells / Q000473:pathology / Q000648:ultrastructure; D006801:Humans; D008168:Lung / Q000473:pathology* / Q000648:ultrastructure; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009542:Niemann-Pick Diseases / Q000473:pathology*; D011014:Pneumonia / Q000473:pathology; D011658:Pulmonary Fibrosis / Q000473:pathology