As the name suggests, this is a severe lethal form of Gaucher disease that manifests in the fetus and results in perinatal or neonatal death. Features of the condition include non-immune hydrops fetalis, hepatosplenomegaly, ichthyosis, and arthrogryposis.
The condition results from mutations in the GBA gene that codes for glucocerebrosidase, a lysosomal enzyme. This in turn leads to the accumulation of beta-glucocerebrosidase deposits in the the liver, spleen and bone marrow cells.