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.
| Published in | American Journal of Pediatrics (Volume 6, Issue 3) |
| DOI | 10.11648/j.ajp.20200603.34 |
| Page(s) | 317-321 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Gaucher’s Disease, Hepatosplenomegaly, Children
| [1] | Preeti B., Jyoti K., Balbir S. S. Gaucher’s Disease- A case report. MVP Journal of Medical Sciences. 2015; 2 (2): 130-31. |
| [2] | Stirnemann J., Belmatoug N., Camou F., Serratrice C., Froissart R., et al. A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. Int. J. Mol. Sci. 2017; 18: 441. |
| [3] | Stirnemann J., Vigan M., Hamroun D., Heraoui D., Rossi-Semerano L., et al. The French Gaucher’s disease registry: Clinical characteristics, complications and treatment of 562 patients. Orphanet J. Rare Dis. 2012; 7, 77. |
| [4] | Limgala R. P., Loanou C, Plassmeyer M., Ryherd M., Kozhaya L., et al. Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease. Pone J. 2016; 11 (12): e0168135. |
| [5] | Grabowski G. A., Leslie N., Wenstrup R. Enzyme replacement therapy for Gaucher disease: The first 5 years. Blood Rev. 1998; 12: 115-33. |
| [6] | Packman W., Crosbie T. W., Behnken M., Eudy K., Packman S. Living with Gaucher Disease: Emotional Health, Psychosocial Needs and Concerns of Individuals with Gaucher Disease. Am J Med Genet. 2010; Part A 152A: 2002-10. |
| [7] | Katz R., Booth T., Hargunani R., Wylie P., Holloway B.. Radiological aspects of Gaucher Disease. Skeletal Radiol. 2010; 40: 1505-13. |
| [8] | James R. A., Grewal D. S., Lee S. J, Mcgill J., Adib N. Lysosomal storage disorders: A review of musculoskeletal features. Journal of Paediatrics and Child Health. 2016; 52: 262-71. |
| [9] | Packman W., Crosbie T. W., Riesner A., Fairley C., Packman S. Psychological complications of patients with Gaucher disease. J Inherit Metab Dis. 2006; 29: 99-105. |
| [10] | Baris H. N., Cohen I. J., Mistry P. K. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr. Endocrinol. 2014; 12 (1): 72-81. |
| [11] | Weinreb N. J, Cappellini MD, Cox TM, Giannini E. H., Grabowski G. A. et al. A validated disease severity scoring system for adults with type 1 Gaucher disease. Genet. Med. 2010; 12 (1): 44-51. |
| [12] | Serai D. S., Naidu A. P., Burrow T. A., Prada C. E., Xanthakos S., et al. Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients. Elsevier. 2017; 1-7. |
| [13] | Serai S. D., Trout A. T, Sirlin C. B. Elastography to assess the stage of liver fibrosis in children: concepts, opportunities, and challenges. Clin. Liver Dis 2017; 9 (1): 5-10. |
| [14] | Baldellou A., Andria G., Campbell P. E., Charrow J., Cohen I. J., et al. Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring. European journal of pediatric. 2004; 163 (2): 67-75. |
| [15] | Dar L., Tiomkin M., Elstein D., Zimran A, Lebel E. Bone mineral density and lean muscle mass characteristics in children with Gaucher disease treated with enzyme replacement therapy or untreated. Blood cells, molecules & diseases. 2018; 68: 135-8. |
| [16] | Limgala R. P., Ioanou C., Plassmeyer M., Ryherd M., Kozhaya L., et al. Time of Initiating Enzyme Replacement Therapy Affects Immune Abnormalities and Disease Severity in Patients with Gaucher Disease. PLoS One. 2016 Dec 12; 11 (12): e0168135. |
APA Style
Sri Satya Mahayani, I Gusti Lanang Sidiartha, I Gusti Ayu Eka Pratiwi. (2020). Gaucher’s Disease in a 2 Years Old Child: A Case Report. American Journal of Pediatrics, 6(3), 317-321. https://doi.org/10.11648/j.ajp.20200603.34
ACS Style
Sri Satya Mahayani; I Gusti Lanang Sidiartha; I Gusti Ayu Eka Pratiwi. Gaucher’s Disease in a 2 Years Old Child: A Case Report. Am. J. Pediatr. 2020, 6(3), 317-321. doi: 10.11648/j.ajp.20200603.34
AMA Style
Sri Satya Mahayani, I Gusti Lanang Sidiartha, I Gusti Ayu Eka Pratiwi. Gaucher’s Disease in a 2 Years Old Child: A Case Report. Am J Pediatr. 2020;6(3):317-321. doi: 10.11648/j.ajp.20200603.34
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Download@article{10.11648/j.ajp.20200603.34,
author = {Sri Satya Mahayani and I Gusti Lanang Sidiartha and I Gusti Ayu Eka Pratiwi},
title = {Gaucher’s Disease in a 2 Years Old Child: A Case Report},
journal = {American Journal of Pediatrics},
volume = {6},
number = {3},
pages = {317-321},
doi = {10.11648/j.ajp.20200603.34},
url = {https://doi.org/10.11648/j.ajp.20200603.34},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20200603.34},
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.},
year = {2020}
}
TY - JOUR T1 - Gaucher’s Disease in a 2 Years Old Child: A Case Report AU - Sri Satya Mahayani AU - I Gusti Lanang Sidiartha AU - I Gusti Ayu Eka Pratiwi Y1 - 2020/08/13 PY - 2020 N1 - https://doi.org/10.11648/j.ajp.20200603.34 DO - 10.11648/j.ajp.20200603.34 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 317 EP - 321 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20200603.34 AB - 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. VL - 6 IS - 3 ER -
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