[Type B Niemann Pick disease: clinical description of three patients in a same family].
BACKGROUND
The Niemann Pick disease type B is a rare deficiency in sphingomyelinase activity, autosomal recessively inherited.


METHODS
We report three patients (two men, one woman) of the same family, who showed pulmonary and hepatosplenic lesions, usually present in the disease but also adrenal gland lesions confirmed by tomodensitometry.


CONCLUSIONS
The current treatment of Niemann Pick disease is purely symptomatic awaiting the use of enzymatic replacement therapy which has been successfully experimented in animal model.
Alizon
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Service de pneumologie, CHU d'Angers, 4, rue Larrey, 49933 Angers cedex 09, France. clairealiz@yahoo.fr
Beucher
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Gourdier
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Lavigne
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D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D052537:Niemann-Pick Disease, Type B / Q000175:diagnosis* / Q000235:genetics*