Lung Affectation in an Adult Patient With Niemann-Pick Disease, Type B

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• 作者：Rocí ; o Casta&ntilde ; ó ; n Martí ; nez^a ; ^{neuroroc@hotmail.com} ; Marí ; a Ferná ; ndez-Velilla Pe&ntilde ; a^b ; M. Victoria Gonzá ; lez Monta&ntilde ; o^c ; Luis Gó ; mez Carrera^d ; M. Isabel Torres Sá ; nchez^b
• 关键词：Niemann-Pick disease ; Interstitial lung disease ; Hepatosplenomegaly ; Acid sphingomyelinase
• 刊名：Archivos de Bronconeumologí ; a (English Edition)
• 出版年：2012
• 期刊代码：22_15792129
• 类别：med
• 出版时间：June, 2012
• 卷：48
• 期：6
• 页码：213-215
• 文件大小：1110 K

摘要

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 鈥渃razy-paving鈥?pattern is not the most specific for this pathology, N-P disease should be included in the differential diagnosis.