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Case Reports
. 2024 Jan 20:15:1-7.
doi: 10.2147/JBM.S444296. eCollection 2024.

Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl

Yekosani Mitala  1 , Abraham Birungi  1 , Branchard Mushabe  2 , John Manzi  3 , Brian Ssenkumba  1 , Raymond Atwine  1 , Siyadora Ankunda  2   4
Affiliations
Case Reports

Type 1 Gaucher's Disease. A Rare Genetic Lipid Metabolic Disorder Whose Diagnosis Was Concealed by Recurrent Malaria Infections in a 12-Year-Old Girl

Yekosani Mitala et al. J Blood Med. .

Abstract

Introduction: Gaucher disease is a rare autosomal recessive lysosomal storage disease with unknown prevalence in Africa and no record of the disease exists in Uganda.

Case presentation: We report a case of a 12-year-old female, the last born of 6 from a family with no known familial disease who presented with non-neuronopathic Gaucher disease and superimposed malaria. The disease was initially misdiagnosed as hyperreactive malarial splenomegaly but was subsequently confirmed by examination of the bone marrow smear and core. The disease was managed supportively and splenectomy was done due to worsening hematological parameters. She currently takes morphine for bone pains in addition to physiotherapy.

Conclusion: Always HMS is a common complication in malaria endemic areas, other causes of hepatosplenomegaly need to be excluded before the diagnosis is made. Diagnosis and treatment of patients with rare conditions like GD is still a challenge in developing countries. Although splenectomy is indicated in GD, it should only be done when it is absolutely necessary.

Keywords: Uganda; case report; type 1 Gaucher’s disease.

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Conflict of interest statement

The author(s) report no conflicts of interest in this work.

Figures

Figure 1
Figure 1
(A) Shows gross hepatomegaly and splenomegaly. (B) Shows the spleen after splenectomy was done.
Figure 2
Figure 2
Both panels (A and B) are bone marrow smears showing large cells (macrophages) with multiple hyperchromatic eccentric and nuclei with abundant bluish cytoplasm (Gaucher cells) (X400, Giemsa stain).
Figure 3
Figure 3
(A) Low power Images of the trephine biopsy showing a hypercellular marrow (100% cellularity) with numerous large cells with abundant pink cytoplasm crowding out all the hematopoietic cells. (B) high power view (x400) of the same marrow showing Gaucher cells with wrinkled tissue paper cytoplasm. (C) High power view of the trephine biopsy showing Gaucher cells weakly positive for periodic acid Schiff (PAS). (D) Histology section of the spleen showing sheets of macrophages (Gaucher cells) with abundant amphophilic cytoplasm and scattered residual lymphocytes.
Figure 4
Figure 4
X-ray of the femur taken 5 weeks after splenectomy showing early musculoskeletal changes in the bones (Erlenmeyer flask deformity in the right femur).
See this image and copyright information in PMC

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References

    1. Pastores GM, Hughes DA. Gaucher disease. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, editors. Genereviews(®). Seattle: University of Washington, SeattleCopyright © 1993–2023, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993.
    1. Sevitz H, Laher F, Varughese S, Nel M, McMaster A, Jacobson B. Baseline characteristics of 32 patients with Gaucher disease who were treated with imiglucerase: South African data from the International Collaborative Gaucher Group (ICGG) gaucher registry. South Afr Med J. 2022;112(1):21–26. - PubMed
    1. Stirnemann J, Belmatoug N, Camou F, et al. A review of Gaucher disease pathophysiology, clinical presentation and treatments. Int J Mol Sci. 2017;18(2):441. doi:10.3390/ijms18020441 - DOI - PMC - PubMed
    1. Stone WLBH, Master SR. Gaucher disease. 2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK448080/. Accessed January 18, 2024.
    1. Disorders. NNOfR. Gaucher disease: national organization for rare disorders; 2018. Available from: https://rarediseases.org/rare-diseases/gaucher-disease/. Accessed January 18, 2024.

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