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[Interstitial pneumopathy revealing type B Niemann Pick disease in an adult]
M D Piercecchi1, M C Sault, S Caillères
1Service d'anatomie et de cytologie pathologiques, centre hospitalier du Pays d'Aix, Aix-en-Provence, France.
Introduction:
Niemann-Pick disease is an autosomal recessive disorder due to partial or total deficit in sphingomyelinase.
Exegesis:
We report a case of type B Niemann-Pick disease revealed by pneumonia and splenomegaly associated with blue histiocyte syndrome. Investigations that were done 2 years prior to diagnosis had shown the existence of isolated chronic lipid pneumonia which is specific of overloading.
Conclusion:
Though diagnosis is based on biochemistry, the morphology of alveolar histiocytes after simple bronchoalveolar lavage is of value.
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