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

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1- Assistant Professor, Department of Radiology, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran , ar_ehsanbakhsh@bums.ac.ir
Abstract:   (52102 Views)
Wolmanchr('39')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.
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Type of Study: Case Report | Subject: Biochemistry
Received: 2006/09/6 | Accepted: 2016/03/10 | ePublished: 2016/03/10