Wolman Disease with a Low Cholesterol Level: An Unusual Laboratory Finding

Wolman disease is a very rare autosomal recessive genetic disorder. The patients have the typical clinical finding of hepatosplenomegaly but with an abnormal lipid profile high levels total cholesterol (TC), triglycerides, and low-density lipoprotein (LDL-C), low level high-density (HDL-C). We report 1-month-old boy who had atypical TC level, both LDL-C HDL-C. study revealed compound heterozygous mutation LIPA gene, leading to confirmed diagnosis disease.