Combined Emphysema and Interstitial Lung Disease as a Rare Presentation of Pulmonary Involvement in a Patient with Chronic Visceral Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B).

BACKGROUND Niemann-Pick disease is a rare genetic disorder caused by mutations in sphingomyelin phosphodiesterase 1 gene. It results in acid sphingomyelinase deficiency (ASMD) and sphingomyelin intracellular accumulation. Lung disease is diagnosed mostly in chronic visceral ASMD. Ground-glass opacities and smooth interlobular septal thickening are described most frequently. They are localized predominantly in the lower parts of both lungs. CASE REPORT The authors describe a rare type of lung involvement, composed of emphysema and interstitial lung disease (ILD), in a nonsmoking adult male with chronic visceral ASMD. Areas of ground-glass opacities and lung fibrosis presenting as reticulation and bronchiectasis have been described in high-resolution computed tomography of the lungs. The radiological findings were localized predominantly in the middle and lower parts of both lungs. Large air spaces of marginal emphysema, localized in the upper lobes, were also demonstrated. Foamy macrophages, staining blue with May-Grünwald-Giemsa, were found in bronchoalveolar lavage, confirming lung involvement in the course of ASMD. The course of disease was stable, with no hypoxemia at rest. Nevertheless, because of markedly decreased lung transfer for carbon monoxide and significant desaturation on exertion, further controls have been planned, with qualification for long-term oxygen therapy in case of deterioration. CONCLUSIONS We present a unique type of lung involvement, combined emphysema and ILD, in a nonsmoking adult patient with chronic visceral ASMD. On such occasion chronic obstructive pulmonary disease coexisting with ILD as well as chronic pulmonary fibrosis and emphysema syndrome should be excluded.