[Gaucher's disease].
Two cases of Gaucher's disease are described. The diagnosis was based on clinical appearance, observation of the typical cells in the sternal and splenic puncture biopsies. Leucocytic beta-glucocerebrosidase activity was found inhibited in contrast to normal activity of the other lysosomal glycosidases. A female of 51 developed significant changes in the bones, progressive enlargement of the liver, chronic calculous cholecystitis 36 years after splenectomy. Current aspects of pathogenesis, clinical symptoms, diagnosis and treatment of Gaucher's disease are reviewed.
Adult↗