Niemann-Pick Type B long taken for miliary tuberculosis: A Rare cause of interstitial lung disease: A case report
1 Department of Pulmonology, Mohammed VI university hospital center, LRMS Lab, FMPM, Cadi Ayyad University, Marrakech, Morocco.
2 Department of Pathology,Mohammed VI university hospital center, LRMS Lab, FMPM, Cadi Ayyad University, Marrakech, Morocco.
Case Study
World Journal of Advanced Research and Reviews, 2023, 19(02), 261–267
Article DOI: 10.30574/wjarr.2023.19.2.1512
Publication history:
Received on 19 June 2023; revised on 24 July 2023; accepted on 27 July 2023
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.
Keywords:
Lysosomal storage disorder; Interstitial pulmonary disease; Niemann pick type B; Case report
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