Volume 6, Issue 3, September 2020, Page: 317-321
Gaucher’s Disease in a 2 Years Old Child: A Case Report
Sri Satya Mahayani, Department of Child Health, Sanglah Hospital, Faculty of Medicine, Udayana University, Denpasar, Indonesia
I Gusti Lanang Sidiartha, Department of Child Health, Sanglah Hospital, Faculty of Medicine, Udayana University, Denpasar, Indonesia
I Gusti Ayu Eka Pratiwi, Department of Child Health, Sanglah Hospital, Faculty of Medicine, Udayana University, Denpasar, Indonesia
Received: Jul. 11, 2020;       Accepted: Jul. 23, 2020;       Published: Aug. 13, 2020
DOI: 10.11648/j.ajp.20200603.34      View  62      Downloads  31
Abstract
Gaucher’s Disease (GD) is an autosomal recessive systemic lysosomal storage disorder, characterized by glucocerebroside deposition in cells of macrophage-monocyte system as result of deficiency in lysosomal β-glycosidase (glucocerebrosidase). GD is a rare genetic disorder. It is the most common among the lysosomal storage disorders. Hereby we report a 2-year-old male presented with weakness, pallor and gradually enlarge belly. In the beginning the diagnosis was suspected acute leukemia, an abnormality in hematooncology due to bisitopenia and organomegaly. Therefore patient was gone through Bone Marrow Aspiration (BMA) to confirm the diagnosis, however the results of 3 times BMA were not align with acute leukemia. Moreover the history and clinical examination pointed to be a lipid storage disease. Finally patient was diagnosed as GD after the smear of BMA showed foam cell. In addition the confirmation of Gaucher’s disease was performed by measurement of glucocerebrosidase level, which resulted low in β-Glukosidase 0.97 uM/hr (normal level > 1.8 uM/hr). Therefore we emphasize the importance of early recognition by clinical manifestation and histological findings. GD should be considered as differential diagnosis of children with unexplained hepatosplenomegaly. Patients suspected with acute leukemia should be examined for possibility of GD from bone marrow smear. Furthermore, early recognition of GD would lead to safe and effective treatment with enzyme replacement which can decrease morbidity.
Keywords
Gaucher’s Disease, Hepatosplenomegaly, Children
To cite this article
Sri Satya Mahayani, I Gusti Lanang Sidiartha, I Gusti Ayu Eka Pratiwi, Gaucher’s Disease in a 2 Years Old Child: A Case Report, American Journal of Pediatrics. Vol. 6, No. 3, 2020, pp. 317-321. doi: 10.11648/j.ajp.20200603.34
Copyright
Copyright © 2020 Authors retain the copyright of this article.
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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