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Maladie de Niemann-Pick de type B : description clinique de trois cas familiaux

Maladie de Niemann-Pick de type B : description clinique de trois cas familiaux

Authors :
Alizon, C.
Beucher, A.-B.
Gourdier, A.-L.
Lavigne, C.
Source :
Revue de Médecine Interne. Aug2010, Vol. 31 Issue 8, p562-565. 4p.
Publication Year :
2010

Abstract

Abstract: Introduction: The Niemann Pick disease type B is a rare deficiency in sphingomyelinase activity, autosomal recessively inherited. Case reports: 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. Conclusion: 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. [ABSTRACT FROM AUTHOR]

Details

Language :
French
ISSN :
02488663
Volume :
31
Issue :
8
Database :
Academic Search Index
Journal :
Revue de Médecine Interne
Publication Type :
Academic Journal
Accession number :
52913456
Full Text :
https://doi.org/10.1016/j.revmed.2010.01.009