Gaucher’s disease-a rare cause of massive splenomegaly

Farzana Rahman, S. K. Jakaria Been Sayeed, Sabrina Rahman, A. K.M.Humayon Kabir, Md Mujibur Rahman

Research output: Contribution to journalArticle

Abstract

Gaucher’s disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it’s one of the rare genetic diseases for which therapy is now available. Lysosomal storage of the substrate in cells of the reticuloendothelial system leads to multisystem manifestations, including involvement of the liver, spleen, bone marrow, lungs, and nervous system. Three different subtypes have been identified: Type 1, non-neuropathic form, adult onset; type 2, acute neuropathic form, infantile onset; type 3, neuropathic form, juvenile onset. The diagnosis is confirmed by presence of less than 15% activity of the enzyme Glucocerebrosidase in peripheral leucocyte with presence of Gaucher cells in macrophase monocyte system, is the pathological hallmark. Enzyme replacement therapy (ERT) is now available. We are reporting a case here which presented with cytopenia and massive splenomegaly.This case has been presented to focus on the importance of clinical examinations, differentiating from other diseases of similar manifestations, enzyme activity and bone marrow study for early diagnosis.

Original languageEnglish
Pages (from-to)98-101
Number of pages4
JournalJournal of Medicine (Bangladesh)
Volume20
Issue number2
DOIs
Publication statusPublished - 01 Jan 2019

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Gaucher Disease
Splenomegaly
Bone Marrow
Glucosylceramidase
Enzyme Replacement Therapy
Mononuclear Phagocyte System
Inborn Genetic Diseases
Enzymes
Rare Diseases
Nervous System
Early Diagnosis
Monocytes
Leukocytes
Spleen
Lung
Liver
Therapeutics

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Rahman, F., Jakaria Been Sayeed, S. K., Rahman, S., Kabir, A. K. M. H., & Rahman, M. M. (2019). Gaucher’s disease-a rare cause of massive splenomegaly. Journal of Medicine (Bangladesh), 20(2), 98-101. https://doi.org/10.3329/jom.v20i2.42011
Rahman, Farzana ; Jakaria Been Sayeed, S. K. ; Rahman, Sabrina ; Kabir, A. K.M.Humayon ; Rahman, Md Mujibur. / Gaucher’s disease-a rare cause of massive splenomegaly. In: Journal of Medicine (Bangladesh). 2019 ; Vol. 20, No. 2. pp. 98-101.
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Rahman, F, Jakaria Been Sayeed, SK, Rahman, S, Kabir, AKMH & Rahman, MM 2019, 'Gaucher’s disease-a rare cause of massive splenomegaly', Journal of Medicine (Bangladesh), vol. 20, no. 2, pp. 98-101. https://doi.org/10.3329/jom.v20i2.42011

Gaucher’s disease-a rare cause of massive splenomegaly. / Rahman, Farzana; Jakaria Been Sayeed, S. K.; Rahman, Sabrina; Kabir, A. K.M.Humayon; Rahman, Md Mujibur.

In: Journal of Medicine (Bangladesh), Vol. 20, No. 2, 01.01.2019, p. 98-101.

Research output: Contribution to journalArticle

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