Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia

Ekarini Katharina Yunarti Nabu; Ni Nyoman Mahartini; Ida Ayu Putri Wirawati; Sianny Herawati; Betti Bettavia Hartama Pardosi; Ni Komang Krisnawati; Anak Agung Ayu Lydia Prawita; I Putu Yuda Prabawa

doi:10.15562/bmj.v10i2.2479

Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia

Ekarini Katharina Yunarti Nabu ,

Ni Nyoman Mahartini ,

Ida Ayu Putri Wirawati ,

Sianny Herawati ,

Betti Bettavia Hartama Pardosi ,

Ni Komang Krisnawati ,

Anak Agung Ayu Lydia Prawita ,

I Putu Yuda Prabawa ,

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DOI: https://doi.org/10.15562/bmj.v10i2.2479 |
Published: 2021-08-10

Abstract

Background: Gaucher's disease is a rare Lysosomal Storage Disorder (LSD) caused by the accumulation of glucosylceramide/glucocerebroside. There are several types of Gaucher, such as non-neuronopathic, infantile-onset neuronopathic and juvenile-onset neuronopathic. This case study aims to evaluate Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia.

Case Presentation: A 4-years-old child is admitted to the hospital with a chief complaint of enlargement in the stomach. There is no pain in the bone as well as no sign of bleeding. The patient's parents are blood relatives. On physical examination, hepatosplenomegaly was found, a decreased level of hemoglobin and thrombocytes was also found in the hematology examination. There was an increase of level ferritin, Alanine Aminotransferase (ALT), Aspartate Aminotransferase (AST), globulin, and triglycerides from chemistry evaluation, also decreasing level total cholesterol. From bone marrow aspiration was found an increase of activity of the megakaryocyte and Gaucher's cell. The result from enzyme examination found a decrease of activity enzyme ?-glucosidase. Suggestion to this patient is Enzyme Replacement Therapy (ERT).

Conclusion: Gaucher's disease is a rare case and difficult to diagnose. A biochemistry examination using the enzyme -glucosidase is necessarily needed as well as a suggestion of ERT.

References

1. Marques ARA, Saftig P. Lysosomal storage disorders - challenges, concepts and avenues for therapy: beyond rare diseases. J Cell Sci. 2019;132(2):jcs221739.
2. Essabar L, Meskini T, Lamalmi N, Ettair S, Erreimi N, Mouane N. Gaucher's disease: report of 11 cases with review of literature. Pan Afr Med J. 2015;20:18.
3. Nalysnyk L, Rotella P, Simeone JC, Hamed A, Weinreb N. Gaucher disease epidemiology and natural history: a comprehensive review of the literature. Hematology. 2017;22(2):65-73.
4. Grabowski GA. Gaucher disease and other storage disorders. Hematology Am Soc Hematol Educ Program. 2012;2012:13-18.
5. Shemesh E, Deroma L, Bembi B, Deegan P, Hollak C, Weinreb NJ, et al. Enzyme replacement and substrate reduction therapy for Gaucher disease. Cochrane Database Syst Rev. 2015;(3):CD010324.
6. Ilan Y, Elstein D, Zimran A. Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent. Immunol Cell Biol. 2009;87(7):514-524.
7. Beutler E, Demina A, Gelbart T. Glucocerebrosidase mutations in Gaucher disease. Mol Med. 1994;1(1):82-92.
8. Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, et al. Gaucher disease glucocerebrosidase and ?-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell. 2011;146(1):37-52.
9. Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. Iran J Child Neurol. 2019;13(1):7-24.
10. Thomas AS, Mehta A, Hughes DA. Gaucher disease: haematological presentations and complications. Br J Haematol. 2014;165(4):427-440.
11. Fasouliotis SJ, Ezra Y, Schenker JG. Gaucher's disease and pregnancy. Am J Perinatol. 1998;15(5):311-318.
12. Guggenbuhl P, Grosbois B, Chalès G. Gaucher disease. Joint Bone Spine. 2008;75(2):116-124.
13. Linari S, Castaman G. Clinical manifestations and management of Gaucher disease. Clin Cases Miner Bone Metab. 2015;12(2):157-164.
14. Bohra V, Nair V. Gaucher's disease. Indian J Endocrinol Metab. 2011;15(3):182-186.
15. Nagral A. Gaucher disease. J Clin Exp Hepatol. 2014;4(1):37-50.
16. Mata IF, Samii A, Schneer SH, Roberts JW, Griffith A, Leis BC, et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol. 2008;65(3):379-82.
17. Cox TM. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis. 2001;24 Suppl 2:106-88.
18. Rosenbloom BE, Weinreb NJ. Gaucher disease: a comprehensive review. Crit Rev Oncog. 2013;18(3):163-175.

Gaucher's disease in a 4-year-old child at Sanglah General Hospital, Bali, Indonesia

Abstract

References

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