Gaucher disease: A 10 year old girl with anemia and huge spelenomegaly (a case report).
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.
Davarian
Ali
A
Faculty of Medicine, Gorgan University of Medical Sciences, Gorgan, Iran.
Mirbehbahani
Narges Beigom
NB
D000740:Anemia / Q000150:complications* / Q000188:drug therapy*; D001854:Bone Marrow Cells / Q000473:pathology; D002648:Child; D005260:Female; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy*; D005962:Glucosylceramidase / Q000235:genetics / Q000627:therapeutic use; D006529:Hepatomegaly / Q000000981:diagnostic imaging*; D006801:Humans; D011994:Recombinant Proteins / Q000627:therapeutic use; D016896:Treatment Outcome; D014463:Ultrasonography
D011994:Recombinant Proteins; D005962:Glucosylceramidase; C090568:imiglucerase