Servicio de Radiodiagnóstico, Hospital de Mérida, Badajoz, España.
Arch Bronconeumol. 2012 Jun;48(6):213-5. doi: 10.1016/j.arbres.2011.07.009. Epub 2011 Nov 8.
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.
我们在报告一例尼曼-皮克（N-P）病 B 型病例后，对文献进行了回顾，特别强调了肺部受累的放射学表现。患者 40 岁，6 岁时因肝脾肿大和胸片上出现网状影而被怀疑可能患有 N-P 病，最初肺功能检查正常。该诊断通过测量皮肤成纤维细胞培养中酸性鞘磷脂酶（ASM）酶的活性，并通过证明 ASM 基因突变的存在而得到确认。在贮积病中，应始终考虑肺部受累，最可靠的放射学技术是高分辨率计算机断层扫描。虽然“铺路石”模式并非对此病理学最具特异性，但应将 N-P 病纳入鉴别诊断。
