Hermansky-Pudlak Syndrome: Radiography and CT of the Chest Compared with Pulmonary Function Tests and Genetic Studies
Nilo A. Avila1,
Mark Brantly2,
Ahalya Premkumar1,
Marjan Huizing3,
Andrew Dwyer1 and
William A. Gahl3
1 Department of Diagnostic Radiology, Warren G. Magnuson Clinical Center,
National Institutes of Health, Bldg. 10, Rm. 1C-660, 10 Center Dr., MSC 1182,
Bethesda, MD 20892-1182.
2 Division of Pulmonary Critical Care Medicine, University of Florida College of
Medicine, J. Hillis Miller Health Center, Rm. M-452 MSB, 1600 S.W. Archer Rd.,
Gainesville, FL 32610.
3 Section on Human Biochemical Genetics, Heritable Disorders Branch, National
Institute of Child and Human Development, National Institutes of Health, Bldg.
10, Rm. 9S-241, Bethesda, MD 20892.
View larger version (107K):
[in a new window]
|
Fig. 1A. —Photomicrographs of specimens obtained from pulmonary lavage.
(Wright's stain, x2000) Images show normal alveolar macrophage
(arrow, A) seen in adult without Hermansky-Pudlak syndrome and
abnormal alveolar macrophage (B) seen in adult with Hermansky-Pudlak
syndrome. Note foamy accumulation of ceroid (arrow, B) in
Hermansky-Pudlak syndrome macrophage.
|
|
View larger version (108K):
[in a new window]
|
Fig. 1B. —Photomicrographs of specimens obtained from pulmonary lavage.
(Wright's stain, x2000) Images show normal alveolar macrophage
(arrow, A) seen in adult without Hermansky-Pudlak syndrome and
abnormal alveolar macrophage (B) seen in adult with Hermansky-Pudlak
syndrome. Note foamy accumulation of ceroid (arrow, B) in
Hermansky-Pudlak syndrome macrophage.
|
|
View larger version (139K):
[in a new window]
|
Fig. 2. —39-year-old woman with Hermansky-Pudlak syndrome.
Posteroanterior chest radiograph shows patchy areas of interstitial
infiltrates (arrow).
|
|
View larger version (96K):
[in a new window]
|
Fig. 3. —53-year-old man with Hermansky-Pudlak syndrome. Unenhanced
axial CT scan obtained using 1-mm-thick sections through lung bases with
patient in prone position shows reticular patches (arrow) in
periphery of lung.
|
|
View larger version (129K):
[in a new window]
|
Fig. 4. —54-year-old man with Hermansky-Pudlak syndrome. Unenhanced
axial CT scan obtained using 1-mm-thick sections through lung bases with
patient in prone position shows ground-glass pattern (black arrow),
bronchiectasis (white arrow), and peribronchovascular thickening
(arrowhead).
|
|
View larger version (120K):
[in a new window]
|
Fig. 5A. —47-year-old woman with Hermansky-Pudlak syndrome. Baseline
axial high-resolution CT scans of right and left lungs obtained using
1-mm-thick sections at level of carina with patient in prone position show
patchy reticular infiltrates in anterior lungs and reveal mild
bronchiectasis.
|
|
View larger version (127K):
[in a new window]
|
Fig. 5B. —47-year-old woman with Hermansky-Pudlak syndrome. Baseline
axial high-resolution CT scans of right and left lungs obtained using
1-mm-thick sections at level of carina with patient in prone position show
patchy reticular infiltrates in anterior lungs and reveal mild
bronchiectasis.
|
|
View larger version (154K):
[in a new window]
|
Fig. 5C. —47-year-old woman with Hermansky-Pudlak syndrome. Follow-up
high-resolution CT scan obtained 26 months after A at carina but
slightly above level of A shows progression of ground-glass opacities,
bronchiectasis, peribronchovascular thickening, septal lines, and
reticulation, indicating patient's condition has worsened since baseline
scanning.
|
|
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Reddit 
Technorati What's this?
Copyright © 2002 by the American Roentgen Ray Society.
