A child presents with splenomegaly, anemia, thrombocytopenia, bone pain, and failure to thrive. Which disease is most likely?

• A. Niemann-Pick disease
• B. Tay-Sachs disease
• C. Gaucher disease, glucocerebrosidase deficiency
• D. Hurler syndrome

Answer: (C)

This presentation points to a lysosomal storage disorder where lipid-laden macrophages infiltrate the spleen, liver, and bone marrow. In Gaucher disease, deficiency of glucocerebrosidase leads to accumulation of glucocerebroside in macrophages, creating the characteristic Gaucher cells. The marrow and spleen become congested with these cells, causing splenomegaly and hypersplenism, which in turn produces anemia and thrombocytopenia. Bone involvement is also prominent, with bone pain and crises from marrow infiltration and weakened bone structure, contributing to poor weight gain or failure to thrive in a child.

The other conditions have features that don’t fit as neatly with this blend. For example, Niemann-Pick also has hepatosplenomegaly but tends to include earlier neurodegeneration and different cellular storage patterns; Tay-Sachs typically lacks organomegaly and is mainly neurodegenerative; Hurler syndrome involves mucopolysaccharide accumulation with coarse facial features and corneal clouding rather than the prominent bone marrow–related bone pain and cytopenias seen here. The combination of splenomegaly, cytopenias, bone pain, and failure to thrive most strongly fits Gaucher disease.