title: Pulmonary involvement in an adult female affected by type B Niemann Pick disease.
abstract: We describe the case of a 33-year-old woman who presented with a pattern of diffuse micronodular opacities with centrolobular distribution at high resolution chest tomography (HRCT) performed after exposure to the smoke of a home fire. An abdominal CT scan showed the presence of 3 rounded hypodense lesions in the spleen parenchyma. A bronchoalveolar lavage (BAL) was performed, showing the presence of lipid laden cells in the aspirated fluid. A video-assisted thoracoscopic biopsy confirmed the presence of the foamy cells filling the alveolar spaces and showed a preserved background pulmonary architecture; the bronchiolar epithelium presented a cytoplasm with a particularly clear colour. Foam cells were present in the bone marrow aspirate too, that contained also sea-blue histiocytes. These data induced us to consider the diagnosis of a metabolic storage disorder, in the first instance Niemann-Pick type B, that was confirmed by low acid lysosomal sphingomyelinase activity on cultured fibroblasts: 5.22 nmol/mg prot/h (n.v. 92 +/- 18.2). Lung involvement is an important complication of Niemann-Pick disease, presenting with the clinical and radiological features of a diffuse lung disease.
authors.affiliation: Division of Respiratory Disease, Santa Maria Nuova Hospital, Reggio Emilia, Italy. falco.francesco@asmn.re.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Falco
authors.forename: Bruno
authors.initials: B
authors.lastname: Bembi
authors.forename: Alberto
authors.initials: A
authors.lastname: Cavazza
authors.forename: Maria Gabriela
authors.initials: MG
authors.lastname: Pittis
authors.forename: Luigi
authors.initials: L
authors.lastname: Zucchi
mesh_terms: D000328:Adult; D001706:Biopsy; D001854:Bone Marrow Cells / Q000473:pathology; D001992:Bronchoalveolar Lavage Fluid; D005260:Female; D005487:Foam Cells / Q000473:pathology; D006801:Humans; D008055:Lipids / Q000032:analysis; D008171:Lung Diseases / Q000209:etiology* / Q000473:pathology; D009542:Niemann-Pick Diseases / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed
chemical_list: D008055:Lipids