Imaging of pulmonary manifestations in subtype B of Niemann-Pick disease

Br J Radiol. 2001 Nov;74(887):1059-61. doi: 10.1259/bjr.74.887.741059.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Marrow Cells / pathology
  • Clinical Enzyme Tests
  • Histiocytes / pathology
  • Humans
  • Lung Diseases / diagnostic imaging*
  • Male
  • Niemann-Pick Diseases / diagnostic imaging*
  • Niemann-Pick Diseases / pathology
  • Sphingomyelin Phosphodiesterase / deficiency
  • Tomography, X-Ray Computed

Substances

  • Sphingomyelin Phosphodiesterase