Challenges in the diagnosis of gaucher disease with multiple splenic lesions

Abstract

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.