Lung affectation in an adult patient with Niemann-Pick disease, type B

We have carried out a review of the literature after the presentation of a case of Niemann-Pick (N-P) disease type B reporting the radiological findings with special emphasis on lung affectation. The patient is 40 years old and was diagnosed at the age of 6 with possible N-P disease suspected due to...

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Bibliographic Details
Published in:Archivos de bronconeumología (English ed.) 2012-06, Vol.48 (6), p.213-215
Main Authors: Castañón Martínez, Rocío, Fernández-Velilla Peña, María, González Montaño, M Victoria, Gómez Carrera, Luis, Torres Sánchez, M Isabel
Format: Article
Language:eng ; spa
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Summary:We have carried out a review of the literature after the presentation of a case of Niemann-Pick (N-P) disease type B reporting the radiological findings with special emphasis on lung affectation. The patient is 40 years old and was diagnosed at the age of 6 with possible N-P disease suspected due to the presentation of hepatosplenomegaly and reticular pattern on chest radiography, with initially normal lung function tests. Said diagnosis was confirmed by measuring the activity of acid sphingomyelinase (ASM) enzyme in skin fibroblast cultures and by demonstrating the presence of mutations in the ASM gene. In cases of storage disease, lung affectation should always be considered, and the most reliable radiological technique is high-resolution computed tomography. Although the "crazy-paving" pattern is not the most specific for this pathology, N-P disease should be included in the differential diagnosis.
ISSN:1579-2129
DOI:10.1016/j.arbres.2011.07.009