RT - Journal Article T1 - A case report of Wolman disease in an Iranian neonate JF - Yektaweb YR - 2007 JO - Yektaweb VO - 14 IS - 4 UR - http://journal.bums.ac.ir/article-1-172-en.html SP - 9 EP - 15 K1 - Acid lipase enzyme deficiency K1 - Wolman's disease K1 - Iran K1 - Birjand AB - 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. LA eng UL http://journal.bums.ac.ir/article-1-172-en.html M3 ER -