AN UNCOMMON CAUSE OF SPINAL-CORD COMPRESSION - GAUCHERS-DISEASE

Gaucher's disease is a sphingolipidosis transmitted as an autosomal tr ait. Bone lesions are frequent in type 1 of the disease (i.e. the adul t type without neurological manifestation). We report the case of a 70 -year old woman suffering from spinal lesions with vertebral collapse and spinal cord compression. Our diagnosis was based on the finding in bone samples of Gaucher cells looking like large macrophages, and on the enzymatic assay of glucocerebrosidase. New treatments, such as rep lacement of the deficient enzyme by placental glucocerebrosidase, are currently being evaluated.