Volume 8, Issue 4, December 2020, Page: 133-137
Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation
I Made Karma Setiyawan, Department of Child Health, Udayana University, Denpasar, Indonesia
I Gusti Lanang Sidiartha, Department of Child Health, Udayana University, Denpasar, Indonesia
I Gusti Ayu Putu Eka Pratiwi, Department of Child Health, Udayana University, Denpasar, Indonesia
Received: Oct. 15, 2020;       Accepted: Oct. 26, 2020;       Published: Nov. 4, 2020
DOI: 10.11648/j.ijgg.20200804.13      View  60      Downloads  30
Gaucher Disease (GD) is an autosomal recessive systemic lysosomal storage disorder which is characterized by glucocerebroside deposition in cells of the macrophage-monocyte system as a result of a deficiency in lysosomal glycosidase (glucocerebrosidase). The high prevalence of symptomatic hepatosplenomegaly and thrombocytopenia in GD commonly lead patients to present to haematologists. The time period from onset of symptoms to diagnosis remains prolonged and patients are still predominately diagnosed by bone marrow biopsy. This is a case of a 4-years-old boy who presented with weakness, pallor, and gradually increasing abdominal girth. At first the patient was suspected as an abnormality in hematooncology field (acute leukemia) due to the results of the laboratories that revealed pancytopenia and the presence of organomegaly. After bone marrow aspiration examination conducted the result was not in accordance in the field of hematooncology. Final diagnosis of GD was established after reevaluating the bone marrow smears that find foam cells/Gaucher cells. Confirmation of diagnosis on Gaucher disease was performed by measurement of glucocerebrosidase activity, where is low in β-Glucosidase 0.07 uM/hr (reference range unit >1.8 uM/hr). GD should be considered in the differential diagnosis of children with unexplained hepatosplenomegaly. Patients with acute leukemia suspicion should be examined for the possibility of having GD from bone marrow smears simultaneously. Moreover, the early recognition of GD would lead to safe and effective treatment with enzyme replacement which can decrease morbidity.
Gaucher Disease, Hepatosplenomegaly, Pancytopenia
To cite this article
I Made Karma Setiyawan, I Gusti Lanang Sidiartha, I Gusti Ayu Putu Eka Pratiwi, Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation, International Journal of Genetics and Genomics. Vol. 8, No. 4, 2020, pp. 133-137. doi: 10.11648/j.ijgg.20200804.13
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This article is an open access article distributed under the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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