Gaucher, Philippe C. E.
Gaucher, Philippe C. E.(go-sha')
Three clinical subtypes of the disease exist. Type 1, comprising 99% of cases, is associated with an enlarged liver and spleen, increased skin pigmentation, and painful bone marrow lesions. Enzyme replacement therapy is effective in this type but may be prohibitively expensive. Type 2 is characterized by neurological symptoms including oculomotor apraxia, strabismus, and hypertonicity. These symptoms usually occur in the first year of life, with death following by age 18 months. Therapy is symptomatic. Type 3 is similar to type 2, but the onset of symptoms is much later and the course is longer. Therapy is symptomatic.