Abstract
Gaucher's disease is a rare lipid storage disorder, affecting one in 40,000-200,000 people and results from a genetic deficiency of the enzyme glucocerebrosidase (glucosylceramidase). We report a 10-year old Iranian girl with chief complaint of anemia from 8 years ago, managed for iron deficiency anemia. The patient had hepatomegaly associated with huge splenomegaly which was confirmed by sonography. No skeletal disorder was found. Bone marrow aspiration revealed typical Gaucher cells. Low level of beta-glucocerebrosidase enzyme activity confirmed the Gaucher disease. The patient is now under treatment with CEREZIME, a recombinant DNA modified form of glucocerebrosidase with good condition.
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