Findings of high-resolution chest computed tomography in a young child with Type C Niemann-Pick disease

Niemann-Pick disease is a rare storage disease involving with deposition of lipids. Manifestations of pulmonary involvement in patients with this disease found using high-resolution computed tomography (HRCT) have been rarely reported in literature. We report findings of high-resolution computed tomography in a 14-month-old child suffering from type C Niemann-Pick disease. The major findings on HRCT of the chest were unevenly thickened dorsal pleura and diffusely thickened interlobular, centrilobular as well as peribronchovascular interstitium. These findings became unremarkable on the follow-up HRCT 6 months after the patient received bone marrow transplantation. Involvement of pulmonary interstitium and pleura in patients with type C Niemann-Pick disease is better demonstrated using HRCT than using chest roentgenogram. Diffuse interstitial involvement in a young child without pulmonary symptoms is suggestive of the possibility of metabolic storage disease.