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Year : 2023  |  Volume : 14  |  Issue : 2  |  Page : 171-175

Challenges in the diagnosis of gaucher disease with multiple splenic lesions

Department of Medicine, College of Medicine, Qassim University, Buraidah, Qassim; Dr. Sulaiman Al Habib Medical Group, Riyadh, Saudi Arabia

Correspondence Address:
Dr. Ahmad Alshomar
Department of Medicine, College of Medicine, Qassim University, Buraidah 51452
Saudi Arabia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/joah.joah_36_23

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The progressive nature, multisystem involvement, and delayed diagnosis of Gaucher disease (GD) make it a challenging disorder. Herein, we report the clinical and genetic findings of a patient with GD of Saudi-Arab ethnicity. In this case, a young patient was discovered to have hepatosplenomegaly and whose radiological image revealed an unusual presentation of multiple nodular lesions in the spleen that were initially thought to represent benign hemangiomas. He had a splenectomy with a liver biopsy, which revealed features consistent with GD. The activity of β-glucocerebrosidase in dry blood spots was below its cutoff value. Molecular genetic analysis of the glucosylceramidase beta gene confirms the diagnosis. Enzyme replacement therapy was initiated.

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