Pulmonary involvement by Niemann-Pick disease. A report of six cases.
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.
Nicholson
A G
AG
Department of Histopathology, Royal Brompton Hospital, London, UK. a.nicholson@rbht.nhs.uk
Florio
R
R
Hansell
D M
DM
Bois
R M
RM
Wells
A U
AU
Hughes
P
P
Ramadan
H K
HK
Mackinlay
C I
CI
Brambilla
E
E
Ferretti
G R
GR
Erichsen
A
A
Malone
M
M
Lantuejoul
S
S
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