Enzyme therapy in Gaucher disease type 2: An autopsy case

A Japanese patient with Gaucher disease type 2 was treated with enzyme ther apy, alglucerase, from 7 to 22 months of age. Whereas hematologic parameter s were normalized and hepatosplenomegaly was alleviated, no improvement in neurologic symptoms occurred, and the patient died of respiratory failure a t age 22 months. Postmortem examination revealed massive intra-alveolar inf iltration of Gaucher cells in lung; and in the central nervous system, i.e. , the presence of Gaucher cells in the perivascular Virchow-Robins spaces i n the cortex and deep white matter and extensive lamilar necrosis with reac tive proliferation of blood vessels and macrophage infiltration of the cere bral cortex. It is suggested that enzyme therapy, with thus far recommended dose, does not prevent long-term respiratory and central nervous system in volvement in severe varients of Gaucher disease.