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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
- 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