The New England Journal of Medicine
e-mail icon  FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |    Advanced Search
Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe
 
Correspondence
PreviousPrevious
Volume 338:1471-1472 May 14, 1998 Number 20
NextNext

Loss of Vision in Gaucher's Disease and Its Reversal by Enzyme-Replacement Therapy

Since this article has no abstract, we have provided an extract of the first 100 words of the full text and any section headings.

 Sign up for free e-toc
 

This Article
-Full Text
-Purchase this article

Tools and Services
-Add to Personal Archive
-Add to Citation Manager
-Notify a Friend
-E-mail When Cited

More Information
-PubMed Citation
To the Editor: We report on an unusual manifestation of Gaucher's disease that responded to enzyme-replacement therapy. A 42-year-old woman with known type 1 Gaucher's disease who was homozygous for the N370S mutation was admitted to our unit with a history of a continuous, severe decrease in left-sided visual acuity over a period of nine months. She also reported asthenia, diffuse skeletal pain, and easy bruising.

The spleen was enlarged, the platelet count was 50,000 per cubic millimeter, and the concentrations of acid phosphatase, angiotensin-converting enzyme, and ferritin were elevated. A magnetic resonance examination of the lower extremities showed moderate . . . [Full Text of this Article]

References


This article has been cited by other articles:



HOME  |  SUBSCRIBE  |  SEARCH  |  CURRENT ISSUE  |  PAST ISSUES  |  COLLECTIONS  |  PRIVACY  |  HELP  |  beta.nejm.org

Comments and questions? Please contact us.

The New England Journal of Medicine is owned, published, and copyrighted © 2008 Massachusetts Medical Society. All rights reserved.