This enlarged spleen is pale and had a firm feel. This came from a young person with Gaucher disease, an inborn error of metabolism with mutation in the gene encoding for the enzyme glucocerebrosidase, resulting in accumulation of storage product in cells of the mononuclear phagocyte system. There are three types. The most common type 1 (99% of cases). is the non-neurologic form in which the affected person has normal intelligence and lives into adulthood. Type 2 is lethal in infancy, while type 3 has a course intermediate between the other types.

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