Refractory megaloblastic anemia associated with excretion of orotic acid.

By CiIAnLI s M. HUGULEY, Jn., JAMES A. BAIN, SHIRLEY L. RIVERS AND ROBERT B. ScoGcINs T HE MAJORITY of anemias associated with a megalohiastic hone marrow respond to vitamin B,2 parenterally. Those which do not respond usually fall into well defined categories of nutritional deficiency, intestinal malahsorption syndromes, pernicious anemia of pregnancy, megaloblastic anemia of infancy or reactions to certain drugs. When these can be excluded a few cases remain which have been described as “idiopathic megaloblastic anemia.” This is probably identical with the “achrestic anemia” of Israels and Wilkinson.’ The rarity of such “idiopathic” cases is illustrated by the findings of only 14 instances in a total of 577 cases of megaloblastic anemia by Davidson.2 It is important to note that all the types of vitamin B,2 refractory megalohiastic anemia listed above, including the idiopathic type, respond to the admmistration of folic acid. Nevertheless, an occasional case is encountered which does not fall into any of these categories and which is also refractory to treatment with folic acid as well as with vitamin B12.3’4 \Ve are here reporting such a case, an infant with a severe anemia characterized by hypochromic erythrocytes and a megalohiastic bone marrow. No response followed treatment with vitamin B,2 or folic acid by mouth or by injection. The anemia was likewise refractory to pyridoxine and to uracil. Nevertheless, there was a partial remission following adrenal steroid therapy, although megaloblasts persisted in the marrow. Finally there was an excellent response to a mixture of uridylic and cytidylic acids administered while steroids were continued. This remission persisted for a time after withdrawal of steroids.