[Interstitial pneumopathy revealing type B Niemann Pick disease in an adult].
BACKGROUND
Niemann-Pick disease is an autosomal recessive disorder due to partial or total deficit in sphingomyelinase.


METHODS
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.


CONCLUSIONS
Though diagnosis is based on biochemistry, the morphology of alveolar histiocytes after simple bronchoalveolar lavage is of value.
Piercecchi
M D
MD
Service d'anatomie et de cytologie pathologiques, centre hospitalier du Pays d'Aix, Aix-en-Provence, France.
Sault
M C
MC
Caillères
S
S
Blanc
A P
AP
Sudan
N
N
D000328:Adult; D001992:Bronchoalveolar Lavage Fluid / Q000166:cytology; D002908:Chronic Disease; D005260:Female; D006801:Humans; D008168:Lung / Q000473:pathology*; D009542:Niemann-Pick Diseases / Q000150:complications / Q000175:diagnosis*; D011014:Pneumonia / Q000209:etiology* / Q000473:pathology; D013163:Splenomegaly / Q000175:diagnosis / Q000209:etiology*
Pneumopathie interstitielle révélatrice d'une maladie de Niemann-Pick de type B chez un adulte.