TY - JOUR JF - Yektaweb JO - J Birjand Univ Med Sci VL - 14 IS - 4 PY - 2007 Y1 - 2007/12/01 TI - A case report of Wolman disease in an Iranian neonate TT - گزارش بیماری وولمن در یک شیرخوار N2 - 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. SP - 9 EP - 15 AU - Ehsanbahksh, AR AU - Chahkandy, T AU - Khorashadizadeh, N AD - Assistant Professor, Department of Radiology, Faculty of Medicine, Birjand University of Medical Sciences, Birjand, Iran KW - Acid lipase enzyme deficiency KW - Wolman's disease KW - Iran KW - Birjand UR - http://journal.bums.ac.ir/article-1-172-en.html ER -