Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation

I Made Karma Setiyawan; I Gusti Lanang Sidiartha; I Gusti Ayu Putu Eka Pratiwi

doi:doi:10.11648/j.ijgg.20200804.13

| Peer-Reviewed

Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation

I Made Karma Setiyawan, I Gusti Lanang Sidiartha, I Gusti Ayu Putu Eka Pratiwi

Published in International Journal of Genetics and Genomics (Volume 8, Issue 4)

Received: 15 October 2020 Accepted: 26 October 2020 Published: 4 November 2020

Views: Downloads:

Download PDF

Share This Article

Twitter
Linked In
Facebook

Abstract

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.

Published in	International Journal of Genetics and Genomics (Volume 8, Issue 4)
DOI	10.11648/j.ijgg.20200804.13
Page(s)	133-137
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), 2020. Published by Science Publishing Group

Keywords

Gaucher Disease, Hepatosplenomegaly, Pancytopenia

References

[1]	Stirnemann J, Belmatoug N, Camou F, Serratrice C, Froissart R, Caillaud C, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017; 18: 1-30.
[2]	Hughes D, Mikosch P, Belmatoug N, Carubbi F, Cox TM, Goker-Alpan O, et al. Gaucher disease in bone: from pathophysiology to practice. Journal of Bone and Mineral Research. 2019; 34: 996-1013.
[3]	Dandana A, Khelifa SB, Chahed H, Miled A, Ferchichi S. Gaucher disease: clinical, biological and therapeutic aspects. Pathobiology. 2016; 83: 13-23.
[4]	O’Reilly RA. Splenomegaly in 2,505 patients in a large university medical center from 1913 to 1995. 1913 to 1962: 2,056 patients. West J Med. 1998; 169: 78-87.
[5]	Mistry PK, Sadan S, Yang R, Yee J, Yang M. Consequences of diagnostic delays in type 1 Gaucher disease: The need for greater awareness among hematologists-oncologists and an opportunity for early diagnosis and intervention. Am J Hematol. 2007; 82: 697-701.
[6]	Martins AM. Inborn errors of metabolism: a clinical overview. Sao Paulo Med J. 1999; 117: 251-65.
[7]	Puri RD, Kapoor S, Kishnani PS, Dalal A, Gupta N, Muranjan M. Diagnosis and management of Gaucher disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics. Indian Pediatrics. 2018; 55: 143-53.
[8]	Cox TM, Schofield JP. Gaucher’s disease: clinical features and natural history. Baillieres Clin Haematol. 1997; 10: 657-89.
[9]	Tabrizi A, Jafari N, Mozafari H. Gaucher disease: new expanded classification emphasizing neurological features. Iran J Child Neurol. 2019; 13: 7-24.
[10]	Cappellini MD. A rare condition in haematological practice-Gaucher Disease. European Oncology & Haematology. 2015; 11: 15-20.
[11]	Thomas AS, Mehta A, Hughes DA. Gaucher disease: haematological presentations and complications. Br J Haematol. 2014; 165: 427–40.
[12]	Zimran A. How I treat Gaucher disease. Blood. 2011; 118: 1463-71.
[13]	Baris HN, Cohen IJ, Mistry PK. Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history. Pediatr. Endocrinol 2014; 12: 72–81.
[14]	Lobato JB, Hidalgo MJ, Jimenez LMJ. Biomarkers in lysosomal storage disease. Diseases. 2016; 4: 1-17.
[15]	Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, et al. Inherited metabolic disorders: efficacy of enzyme assays on dried blood spots for the diagnosis of lysosomal storage disorders. JIMD Reports. 2015.
[16]	Linari S, Castaman G. Clinical manifestations and management of Gaucher Disease. Clinical Cases in Mineral and Bone Metabolism. 2015; 12: 157-64.
[17]	Degnan AJ, Ho-Fung VM, Ahrens-Nicklas RC, Barrera CA, Serai SD, Wang DJ, et al. Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement. Insights into Imaging. 2019; 10: 1-19.
[18]	Grabowski GA, Leslie N, Wenstrup R. Enzyme replacement therapy for Gaucher disease: The ﬁrst 5 years. Blood Rev. 1998; 12: 115–33.
[19]	Sun A. Lysosomal storage disease overview. Annals of Translationa Medicine. 2018; 6: 1-14.

Cite This Article

Plain Text BibTeX RIS

APA Style

I Made Karma Setiyawan, I Gusti Lanang Sidiartha, I Gusti Ayu Putu Eka Pratiwi. (2020). Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation. International Journal of Genetics and Genomics, 8(4), 133-137. https://doi.org/10.11648/j.ijgg.20200804.13

Copy | Download

ACS Style

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. Int. J. Genet. Genomics 2020, 8(4), 133-137. doi: 10.11648/j.ijgg.20200804.13

Copy | Download

AMA Style

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. Int J Genet Genomics. 2020;8(4):133-137. doi: 10.11648/j.ijgg.20200804.13

Copy | Download

@article{10.11648/j.ijgg.20200804.13,
  author = {I Made Karma Setiyawan and I Gusti Lanang Sidiartha and I Gusti Ayu Putu Eka Pratiwi},
  title = {Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation},
  journal = {International Journal of Genetics and Genomics},
  volume = {8},
  number = {4},
  pages = {133-137},
  doi = {10.11648/j.ijgg.20200804.13},
  url = {https://doi.org/10.11648/j.ijgg.20200804.13},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20200804.13},
  abstract = {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.},
 year = {2020}
}

Copy | Download

TY  - JOUR
T1  - Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation
AU  - I Made Karma Setiyawan
AU  - I Gusti Lanang Sidiartha
AU  - I Gusti Ayu Putu Eka Pratiwi
Y1  - 2020/11/04
PY  - 2020
N1  - https://doi.org/10.11648/j.ijgg.20200804.13
DO  - 10.11648/j.ijgg.20200804.13
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 133
EP  - 137
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20200804.13
AB  - 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.
VL  - 8
IS  - 4
ER  -

Copy | Download

Author Information

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

Download PDF

Sections

Plain Text BibTeX RIS

APA Style

I Made Karma Setiyawan, I Gusti Lanang Sidiartha, I Gusti Ayu Putu Eka Pratiwi. (2020). Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation. International Journal of Genetics and Genomics, 8(4), 133-137. https://doi.org/10.11648/j.ijgg.20200804.13

Copy | Download

ACS Style

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. Int. J. Genet. Genomics 2020, 8(4), 133-137. doi: 10.11648/j.ijgg.20200804.13

Copy | Download

AMA Style

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. Int J Genet Genomics. 2020;8(4):133-137. doi: 10.11648/j.ijgg.20200804.13

Copy | Download

@article{10.11648/j.ijgg.20200804.13,
  author = {I Made Karma Setiyawan and I Gusti Lanang Sidiartha and I Gusti Ayu Putu Eka Pratiwi},
  title = {Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation},
  journal = {International Journal of Genetics and Genomics},
  volume = {8},
  number = {4},
  pages = {133-137},
  doi = {10.11648/j.ijgg.20200804.13},
  url = {https://doi.org/10.11648/j.ijgg.20200804.13},
  eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20200804.13},
  abstract = {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.},
 year = {2020}
}

Copy | Download

TY  - JOUR
T1  - Gaucher Disease: A Rare Case in Children with Malignancy-Like Manifestation
AU  - I Made Karma Setiyawan
AU  - I Gusti Lanang Sidiartha
AU  - I Gusti Ayu Putu Eka Pratiwi
Y1  - 2020/11/04
PY  - 2020
N1  - https://doi.org/10.11648/j.ijgg.20200804.13
DO  - 10.11648/j.ijgg.20200804.13
T2  - International Journal of Genetics and Genomics
JF  - International Journal of Genetics and Genomics
JO  - International Journal of Genetics and Genomics
SP  - 133
EP  - 137
PB  - Science Publishing Group
SN  - 2376-7359
UR  - https://doi.org/10.11648/j.ijgg.20200804.13
AB  - 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.
VL  - 8
IS  - 4
ER  -

Copy | Download