In I-cell disease, which organ enlargement is commonly observed?

• A. Splenomegaly
• B. Hepatomegaly
• C. Hepatosplenomegaly
• D. No organ enlargement

Answer: (C)

I-cell disease shows a problem with delivering lysosomal enzymes to their proper destinations because mannose-6-phosphate tagging is defective. As a result, storage materials accumulate inside lysosomes throughout many tissues. The liver and spleen, rich in macrophages, are especially affected; these cells take up the excess storage material and enlarge. Since both organs tend to be involved, the typical finding is hepatosplenomegaly.