Gaucher's disease is an inherited metabolic disorder characterized by enzyme defect, cerebroside β-glucosidase and accumulation of glucocerebroside in reticuloendothelial system. There are three subtypes of Gaucher's disease. Type
1(non-neuronopathic)
is the chronic form occurring rather frequently and shows hepatosplenomegaly, pancytopenia and bone lesion. Type 2(acute neuronopathic) is uniform in severity and progression, showing acute neurologic deterioration and early death. Type
3(subacute
neuronopathic) is less rapidly progressive than type 1 disease, but is also a neurovisceral storage disorder. The diagnosis is confirmed by assay of glucocerebrosidase in white cells or fibroblasts. With enzyme assay, however, carrier and subtype
determination is unreliable, But is possible that studies of the gene for glucocerebrosidase and its mutation may lead to more definitive determination. The treatment is divided into two modalities, the first is symptomatic management with
splenectomy,
time second is enzyme replacement, allogeneic bone marrow transplantation and somatic cell gene transfer. The second modalities are currently experimental.
Recently, two sisters of subacute neuronopathic Gaucher's disease who presented with pancytopenia, hepatosplenomegaly and seizure disorder, were diagnosed as type III Gaucher's disease and confirmed by the enzyme assay. Here we reported these
cases
with
literature review
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