Gaucher disease: enzyme therapy in the acute neuronopathic variant.

Author(s): Prows CA, Sanchez N, Daugherty C, Grabowski GA

Affiliation(s): Division of Patient Care Services, Children's Hospital Medical Center, Cincinnati, Ohio 45229-3039, USA.

Publication date & source: 1997-07-11, Am J Med Genet., 71(1):16-21.

Publication type: Case Reports; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.

The responses to regular intravenous enzyme infusions were compared in two sibs with Gaucher disease type 2, the acute neuronopathic variant. Enzyme administration was begun at 7 months in patient 1 who had severe progressive visceral and neuronopathic disease. No significant effect of enzyme infusions was noted. Death occurred at 9 months. Patient 2 was prenatally diagnosed and enzyme infusions were initiated at age 4 days. Overall development progressed at a rate similar to her unaffected full sib until her death at 15.1 months. Slowly progressive esotropia, ocular paresis and dysphagia began at 8 months as did infiltrative pulmonary disease. Comparison of these clinical courses show significant visceral and neurologic effects of anticipatory enzyme therapy, but with unaltered outcome, for Gaucher disease type 2.