Gaucher's disease in pregnancy

Abstract

G A u c H E R ’ s disease is a rare, hereditary error of metabolism characterized by abnormal storage of cerebrosides in reticuloendothelial cells throughout the body. It was first described by Gaucher in 1882.5 In 1948, Groen7 reviewed the literature and reported the results of the thorough study of 6 families in which 21 of his 25 cases occurred. He postulated that Gaucher’s disease is due to a mutation, probably in an enzyme system, and is transmitted as a simple dominant trait to approximately 50 per cent of the offspring of affected individuals. The disease tends to manifest itself at a progressively earlier age and, at the same time, it tends to run a more acute course with successive generations. Thus, according to Groen, after having passed through several generations, the disease tends to eliminate itself by causing death in early life or. occasionally, stillbirth. Green’ and Cecil2 believed that there is no sex predilection, while Harrison8 stated that the disease occurs more frequently in women. There is general agreement that a large percentage of cases occur in individuals of Jewisb descent. The disease may occur at any age, the reported extremes being in a 7-day-old infant9 and in a 79vear-old man. I,5 Clinical manifestations include splenomegal!;, hepatomegaly, enlargement of Iymph nodes, especially in the visceral groups, pain and tenderness over the long bones, especially the femurs, pathologic fractures, pallor, hemorrhagic diathesis, pingueculae.