Volume 14, Issue 4 (January 2007)                   J Birjand Univ Med Sci. 2007, 14(4): 9-15 | Back to browse issues page

XML Persian Abstract Print

Download citation:
BibTeX | RIS | EndNote | Medlars | ProCite | Reference Manager | RefWorks
Send citation to:

Ehsanbahksh A, Chahkandy T, Khorashadizadeh N. A case report of Wolman disease in an Iranian neonate. J Birjand Univ Med Sci.. 2007; 14 (4) :9-15
URL: http://journal.bums.ac.ir/article-1-172-en.html
1- Assistant Professor , ar_ehsanbakhsh@bums.ac.ir
2- Assistant Professor
Abstract:   (48108 Views)
Wolman's disease is a rare fatal autosomal recessive hereditary disorder caused by a chromosomal abnormality called "lysosomal acid lipase enzyme" that leads to accumulation of triglycerides and cholesterol esters in different body tissues of neonates. There is another form of the disorder called Cholesterol Ester Storage Disease, which is a benign adult form of it. Diagnosis is based on clinical, laboratory, and radiographic imaging. Prenatal diagnosis of the disease is based on `enzyme decrease through culturing amniocytes or chorionic villi. So far, 50 cases of the disease have been reported in the world. In this article a case of this fatal disease in a neonate in Birjand, South Khorasan of Iran is reported.
Full-Text [PDF 1434 kb]   (1692 Downloads)    
Type of Study: Original Article | Subject: General
Received: 2006/09/6 | Accepted: 2016/03/10 | Published: 2016/03/10

Add your comments about this article : Your username or Email:
Write the security code in the box

Send email to the article author

© 2015 All Rights Reserved | Journal of Birjand University of Medical Sciences

Designed & Developed by : Yektaweb