Keywords
bicytopenia
perinuclear vacuolization
How to Cite
Abstract
Background: Wilson’s disease is a rare autosomal recessive disorder of copper metabolism caused by mutation of ATP7B gene on chromosome 13 resulting in excess accumulation of free copper in the liver, brain and eyes. Case presentation: We describe the case of a twelve year old boy with Wilson’s disease who developed bicytopenia. Bone marrow aspirate and biopsy was subsequently performed and the findings were observed. Informed consent was taken from the patient before the procedure. Conclusion: Bone marrow aspirate and biopsy revealed drug induced suppression of bone marrow. Myeloid, erythroid and megakaryocyte series showed perinuclear vacuolization along with abnormal pigment deposition in myeloid precursors. Close monitoring of hematological parameters is required while the patient is on treatment.
References
Shanmugam S, Kennady JA, Ahamed J. A case study on wilson’s disease. Int J Med Rev Case Rep. 2019; 3(3): 120-122. doi:10.5455/IJMRCR.wilson-disease
Chanpong A, Dhawan A. Wilson disease in children and young adults - State of the art. Saudi J Gastroenterol. 2022; 28(1):21-31. doi: 10.4103/sjg.sjg_501_21.
Bini V, Aloysius J, Syama Prasad TV, Reshma R, Remya R. A case report on wilson's disease-induced liver cirrhosis. Asian J Pharm Clin Res. 2017;10:113-4. doi:10.22159/ajpcr.2017.v10i4.16239
Kaetz HW, Brodoff SS, Robbins AW. Wilson's Disease presenting as pancytopenia: splenectomy in anagement. Connecticut Medicine. 1966; 30(5):338-40.
Rau AR, Usha M, Mallya P, Rau AT. Cytopenia and Bone Marrow Dysplasia in a Case of Wilson's Disease. Indian J Hematol Blood Transfus. 2014; 1:433-6. doi: 10.1007/s12288-014-0456-3.
Sharma S, Singh A, Sing P et al. Aplastic anemia in a patient with Wilson’s disease. Journal of hematology, North America, 2012; 1: 4-5. doi: https://doi.org/10.4021/jh39e
Litwin T, Antos A, Bembenek J, et al. Copper Deficiency as Wilson's Disease Overtreatment: A Systematic Review. Diagnostics (Basel). 2023; 13(14):2424. doi: https://doi.org/10.3390/diagnostics13142424.
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