Gaucher’s disease /gôshāz″/ [Phillipe C.E. Gaucher, French physician, 1854–1918] , a rare autosomal-recessive familial disorder of lipid metabolism caused by an enzyme deficiency, characterized by widespread reticulum cell hyperplasia in the liver, spleen, lymph nodes, and bone marrow. Beginning in infancy or early childhood, splenomegaly, hepatomegaly, and abnormal bone growth develop. Diagnosis is made through biopsy of the liver, spleen, or bone marrow. Mortality rate is high, but children who survive adolescence may live for many years. Also called glucosyl cerebroside lipidosis.
