Type B Niemann Pick disease: Clinical description of three patients in a same family

被引：7

作者：

Alizon, C. ^{[1
]}

Beucher, A. -B. ^{[2
]}

Gourdier, A. -L. ^{[3
]}

Lavigne, C. ^{[2
]}

机构：

[1] CHU Angers, Serv Pneumol, F-49933 Angers 09, France

[2] CHU Angers, Serv Med Interne, F-49933 Angers 09, France

[3] CHU Angers, Serv Radiol, F-49933 Angers 09, France

来源：

REVUE DE MEDECINE INTERNE | 2010年 / 31卷 / 08期

关键词：

Niemann-Pick; Interstitial pneumonia; Bilateral adrenal gland hypertrophy; Starry sky; SPHINGOMYELIN;

D O I：

10.1016/j.revmed.2010.01.009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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. (C) 2010 Societe nationale francaise de medecine interne (SNFMI). Published by Elsevier Masson SAS. All rights reserved.

引用

收藏

页码：562 / 565

页数：4

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