SRI SATYA MAHAYANI,I GUSTI LANANG SIDIARTHA
Departement of Child Health Faculty Medicine Udayana University Sanglah Hospital
Background : Gaucher’s Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the machropage-monocyte system as a result of a deficiency in lysosomal glycosidase (glucocerebrosidase). GD is a rare genetic disorders. It is the most common amongst the lysosomal storage disorders.
Case Presentation Summary : We reported a patient male, 2 year old that presented with weakness, pallor and gradually increasing abdominal girth. At first the patient is suspected as an abnormality in the field of hematooncology (Acute leukemia) due to the results of the laboratories bisitopenia and organomegaly. After 3 times Bone Marrow Aspiration (BMA) was not in accordance with the results in the field of hematooncology. Clinical examination and history pointed to be a lipid storage disease. Final diagnosis of GD was reported after examining the bone marrow smears and find foam cell. Confirmation of diagnosis on Gaucher’s disease was performed by measurement of glucocerebrosidase level, where is low in ?-Glukosidase 0.97 uM/hr (normal level >1.8 uM/hr).
Learning Points/Discussion : We report a case of GD to emphasize the importance of early recognition by clinical manifestation and histological findings. GD should be considered in the differential diagnosis of children with unexplained hepatosplenomegaly. Patients with acute leukemia suspicion, parallel is examined for possible GD from bone marrow smears. Moreover, the early recognition of GD would lead to safe and effective treatment with enzyme replacement which can decrease morbidity.
Keywords: gaucher's disease hepatosplenomegaly children
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