Enzyme replacement therapy of infantile Gaucher disease.

We report our experience from enzyme infusion therapy in a girl with infantile (type 2) Gaucher disease. When treatment was started at 5.5 months of age, she already had severe neurological symptoms. After three months of treatment, the hematological parameters and blood glucosylceramide levels were normalized. The spleen and liver sizes were reduced and the neurological deterioration seemed to have stopped. There was, however, no improvement of her existing neurological symptoms. Her lung function deteriorated because of constant aspirations. Enzyme treatment was stopped after seven months. We cannot recommend enzyme substitution therapy when severe neurological signs have already emerged.