Abstract
Background: Type B Niemann-Pick disease (NPD) is a rare lysosomal storage disease secondary to a deficiency in sphingomyelinase activity. The accumulation of sphingomyelin occurs in various organs, the lung in particular, the involvement of which determines the prognosis of the disease [1]. Case presentation: We report a case of type B NPD disease diagnosed in adolescence who was mistakenly treated as a miliary tuberculosis. The disease was revealed by a dyspnea, with a diffuse interstitial disease and a crazy paving at the chest computed tomography, and many foamy histiocytes with finely vacuolated cytoplasm on the bronchoalveolar lavage. Conclusion: Through this case, we underline the diagnostic difficulty of type B NPD and we recall the elements of orientation towards this pathology.
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