Pulmonary involvement in Niemann-Pick disease: Case report and literature review

Niemann-Pick disease (NPD) is a rare, inherited, autosomal recessive, lipid storage disease. The pathognomonic intracellular accumulation of sphingomy elin results in the production and accumulation of 'foam cells'. Interstiti al lung disease is a rare manifestation of NPD. We present the case of a 48 -year-old white female with NPD involving the lungs, liver and spleen. The chest radiograph showed bilateral, predominantly basal reticulonodular infi ltrates and serial pulmonary function tests over a period of years showed p reserved expiratory airflow and a severely decreased diffusion capacity for carbon monoxide (DLCO). In view of her visceral involvement, lack of neuro logical symptoms and survival into adulthood, we believe our patient repres ents a case of type B NPD. In this type of NPD, aside from prominent hepato splenomegaly and sexual immaturity, significant pulmonary infiltration with 'Pick cells' has been reported. To date, no therapeutic modality has been shown to alter the natural history of this disease, which results in progre ssive debilitation and death. This case is unique in that it provides the l ongest physiological follow-up in the literature, and provides data on the natural history of pulmonary involvement in NPD.