Type 2Type 2 Gaucher disease is a very rare, rapidly progressive form of the disease that affects the brain as well as the organs affected by Type 1 Gaucher disease. Formerly called infantile Gaucher disease, Type 2 is characterized by severe neurological involvement in the first year of life. Thus, it is also called acute neuronopathic Gaucher disease. Fewer than I in 100,000 newborns have Type 2 disease. This form of Gaucher disease does not appear to be concentrated within any particular ethnic group.
Infants with Type 2 disease typically appear normal during the first few months of life before developing neurologic symptoms and many of the symptoms associated with Type 1. An afflicted child usually does not live past the age of 2, due to the severe involvement of the nervous system.