AI Article Synopsis
- A review of literature was conducted after a case of Niemann-Pick disease type B, highlighting the importance of lung involvement in the condition.
- The 40-year-old patient had a childhood diagnosis suspected due to symptoms like hepatosplenomegaly and abnormal chest radiography, later confirmed by enzyme activity tests and genetic mutation analysis.
- It emphasizes that lung issues should be considered in storage diseases, with high-resolution computed tomography being the best imaging technique, and notes that the "crazy-paving" pattern, while not specific, is relevant for differential diagnosis.
Article Abstract
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.
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| http://dx.doi.org/10.1016/j.arbres.2011.07.009 | DOI Listing |
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