A child is diagnosed of having Gaucher’s disease. Histology may show accumulation of the following substance:
**Core Concept**
Gaucher's disease is a genetic disorder caused by a deficiency of the enzyme glucocerebrosidase, leading to the accumulation of its substrate, glucocerebroside, in various tissues, including the spleen, liver, and bone marrow.
**Why the Correct Answer is Right**
The deficiency of glucocerebrosidase results in the inability to break down glucocerebroside, a type of glycosphingolipid, into glucose and ceramide. This accumulation of glucocerebroside leads to the formation of Gaucher cells, which are characteristic of the disease. Gaucher cells are typically found in the spleen and liver and are identified by their distinctive appearance, with a large amount of glucocerebroside stored within the cell.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because the accumulation of glucocerebroside is specific to Gaucher's disease, and other substances are not typically associated with this condition.
**Option B:** This option is incorrect because the accumulation of sphingomyelin is characteristic of Niemann-Pick disease, not Gaucher's disease.
**Option C:** This option is incorrect because the accumulation of mucopolysaccharides is characteristic of mucopolysaccharidoses, a group of genetic disorders that are distinct from Gaucher's disease.
**Clinical Pearl / High-Yield Fact**
Gaucher's disease is a lysosomal storage disorder that can be treated with enzyme replacement therapy, which involves the administration of recombinant glucocerebrosidase to replace the deficient enzyme.
**Correct Answer: C. Glucocerebroside.