[Type B Niemann Pick disease: clinical description of three patients in a same family].

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.

• Authors: C Alizon, A-B Beucher, A-L Gourdier, C Lavigne
• Journal: La Revue de medecine interne (Rev Med Interne) Vol. 31 Issue 8 Pg. 562-5 (Aug 2010) ISSN: 1768-3122 [Electronic] France
• Vernacular Title: Maladie de Niemann-Pick de type B: description clinique de trois cas familiaux.
• PMID: 20493597 (Publication Type: Case Reports, English Abstract, Journal Article)
• Copyright: Copyright (c) 2010 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

Topics

• Adult
• Female
• Humans
• Male
• Middle Aged
• Niemann-Pick Disease, Type B (diagnosis, genetics)