M. Eapen et al., Massive splenomegaly and Epstein-Barr virus-associated infectious mononucleosis in a patient with Gaucher disease, J PED H ONC, 21(1), 1999, pp. 47-49
Purpose: Gaucher disease should be considered in the differential diagnosis
of a patient with Epstein-Barr virus (EBV) infection who has unexplained o
r disproportionate splenomegaly.
Patients and Methods: A previously asymptomatic adolescent with EBV-associa
ted infectious mononucleosis and massive splenomegaly is described. He was
found to have Gaucher disease on bone marrow biopsy, which was performed to
exclude a hematologic malignancy. The diagnosis was confirmed by assay of
beta-glucosidase enzyme activity.
Results: Regression of splenomegaly and improving hematologic indices.
Conclusion: Patients with infectious mononucleosis and disproportionate org
anomegaly should be investigated to exclude a hematologic malignancy or an
underlying storage disorder such as Gaucher disease.