Imaging of pulmonary manifestations in subtype B of Niemann-Pick disease.
We report the radiological and high resolution CT (HRCT) findings of the pulmonary involvement in a case of subtype B Niemann-Pick disease, diagnosed in an asymptomatic 22-year-old man, which was proved by bone marrow biopsy and sphingomyelinase assessment. In the present case, HRCT showed smooth interlobular septa thickening and a subtle ground-glass pattern.
Duchateau
F
F
Department of Medical Imaging, Université Catholique de Louvain, Cliniques Universitaires Saint Luc, B-1200 Brussels, Belgium.
Dechambre
S
S
Coche
E
E
D000328:Adult; D001854:Bone Marrow Cells / Q000473:pathology; D004796:Clinical Enzyme Tests; D006644:Histiocytes / Q000473:pathology; D006801:Humans; D008171:Lung Diseases / Q000000981:diagnostic imaging*; D008297:Male; D009542:Niemann-Pick Diseases / Q000000981:diagnostic imaging* / Q000473:pathology; D013108:Sphingomyelin Phosphodiesterase / Q000172:deficiency; D014057:Tomography, X-Ray Computed
D013108:Sphingomyelin Phosphodiesterase